pcr direct sequencing method abi 3730xl (Thermo Fisher)
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Pcr Direct Sequencing Method Abi 3730xl, supplied by Thermo Fisher, used in various techniques. Bioz Stars score: 90/100, based on 1 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
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Mutagenesis:Article Title: A novel in-frame deletion mutation (c106-111del) identified in a Taiwan Chinese patient with type IVA mucopolysaccharidosis. Article Snippet: Nucleotide change-systematic name: c106-111del Amino acid change-trivial name: L36-L37del Mutation / polymorphism type: deletion Polymorphism frequency: N/A Detection method: Direct sequencing PCR products Detection conditions: PCR and sequencing primers: OMF139 and OMF110 (Ogawa et al., 1995) PCR condition: 94°C for 2 min; 35 cycles of 94°C for 20 sec, 55°C for 20 sec and 72°C for 40 sec; and 72°C for 10 min. Electrophoresis: ABI Prism 377 DNA sequencer Diagnosis method developed:. Authors: Chi-Fan Yang1, Fuu-Jen Tsai1,2,3 , Shuan-Pei Lin4, Cheng-Chun Lee1, and Jer-Yuarn Wu1,2* Affiliations: Department of Medical Research1, Medical Genetics2, and Pediatrics3, China Medical College Hospital, Taichung, Department of Pediatics4, Mackay Memorial Hospital, Taipei, Taiwan Corresponding Author Address and E-mail: Jer-Yuarn Wu, Ph.D., Department of Medical Research and Medical Genetics, China Medical College Hospital, 2 Yuh Der Road, Taichung 404, Taiwan; E-mail: juwu@hpd.cmch.org.tw Title : A novel in-frame deletion mutation (c106-111del) identified in a Taiwan Chinese patient with type IVA mucopolysaccharidosis Keywords: Mucopolysaccharidosis IVA, N-acetylgalactosamine-6-sulfate sulfatase, GALNS Species: Homo Sapiens Change is: mutation Gene/Locus Name: N-acetylgalactosamine-6-sulfate sulfatase Symbol: GALNS Genbank accession number: NM_000512 OMIM accession number: 253000 Locus specific database: Chromosomal location: 16q24 Inheritance: Germline; recessive Mutation / polymorphism name Nucleotide change-systematic name: c106-111del Amino acid change-trivial name: L36-L37del Mutation / polymorphism type: deletion Polymorphism frequency: N/A Detection method: Direct sequencing PCR products Detection conditions: PCR and sequencing primers: OMF139 and OMF110 (Ogawa et al., 1995) PCR condition: 94°C for 2 min; 35 cycles of 94°C for 20 sec, 55°C for 20 sec and 72°C for 40 sec; and 72°C for 10 min. Electrophoresis: ABI Prism 377 DNA sequencer Diagnosis method developed: Evidence for existence and effect of mutation: Yes No Don’t know 1.. Base change found on repeat PCR sample X 2. Sequencing:Article Title: A novel in-frame deletion mutation (c106-111del) identified in a Taiwan Chinese patient with type IVA mucopolysaccharidosis. Article Snippet: Nucleotide change-systematic name: c106-111del Amino acid change-trivial name: L36-L37del Mutation / polymorphism type: deletion Polymorphism frequency: N/A Detection method: Direct sequencing PCR products Detection conditions: PCR and sequencing primers: OMF139 and OMF110 (Ogawa et al., 1995) PCR condition: 94°C for 2 min; 35 cycles of 94°C for 20 sec, 55°C for 20 sec and 72°C for 40 sec; and 72°C for 10 min. Electrophoresis: ABI Prism 377 DNA sequencer Diagnosis method developed:. Authors: Chi-Fan Yang1, Fuu-Jen Tsai1,2,3 , Shuan-Pei Lin4, Cheng-Chun Lee1, and Jer-Yuarn Wu1,2* Affiliations: Department of Medical Research1, Medical Genetics2, and Pediatrics3, China Medical College Hospital, Taichung, Department of Pediatics4, Mackay Memorial Hospital, Taipei, Taiwan Corresponding Author Address and E-mail: Jer-Yuarn Wu, Ph.D., Department of Medical Research and Medical Genetics, China Medical College Hospital, 2 Yuh Der Road, Taichung 404, Taiwan; E-mail: juwu@hpd.cmch.org.tw Title : A novel in-frame deletion mutation (c106-111del) identified in a Taiwan Chinese patient with type IVA mucopolysaccharidosis Keywords: Mucopolysaccharidosis IVA, N-acetylgalactosamine-6-sulfate sulfatase, GALNS Species: Homo Sapiens Change is: mutation Gene/Locus Name: N-acetylgalactosamine-6-sulfate sulfatase Symbol: GALNS Genbank accession number: NM_000512 OMIM accession number: 253000 Locus specific database: Chromosomal location: 16q24 Inheritance: Germline; recessive Mutation / polymorphism name Nucleotide change-systematic name: c106-111del Amino acid change-trivial name: L36-L37del Mutation / polymorphism type: deletion Polymorphism frequency: N/A Detection method: Direct sequencing PCR products Detection conditions: PCR and sequencing primers: OMF139 and OMF110 (Ogawa et al., 1995) PCR condition: 94°C for 2 min; 35 cycles of 94°C for 20 sec, 55°C for 20 sec and 72°C for 40 sec; and 72°C for 10 min. Electrophoresis: ABI Prism 377 DNA sequencer Diagnosis method developed: Evidence for existence and effect of mutation: Yes No Don’t know 1.. Base change found on repeat PCR sample X 2. Article Title: Study on the Retreatment, Outcome, and Potential Predictors of Recurrence in Patients With Recurrence of Hepatitis B After Functional Cure Article Snippet: AFP was detected using Cobas E601 (Roche Diagnostics GmbH, Germany) analyzer, and the normal value was <7 ng/ml. .. Sequencing of the P and S regions of HBV was performed using the Polymerase Chain Reaction:Article Title: A novel in-frame deletion mutation (c106-111del) identified in a Taiwan Chinese patient with type IVA mucopolysaccharidosis. Article Snippet: Nucleotide change-systematic name: c106-111del Amino acid change-trivial name: L36-L37del Mutation / polymorphism type: deletion Polymorphism frequency: N/A Detection method: Direct sequencing PCR products Detection conditions: PCR and sequencing primers: OMF139 and OMF110 (Ogawa et al., 1995) PCR condition: 94°C for 2 min; 35 cycles of 94°C for 20 sec, 55°C for 20 sec and 72°C for 40 sec; and 72°C for 10 min. Electrophoresis: ABI Prism 377 DNA sequencer Diagnosis method developed:. Authors: Chi-Fan Yang1, Fuu-Jen Tsai1,2,3 , Shuan-Pei Lin4, Cheng-Chun Lee1, and Jer-Yuarn Wu1,2* Affiliations: Department of Medical Research1, Medical Genetics2, and Pediatrics3, China Medical College Hospital, Taichung, Department of Pediatics4, Mackay Memorial Hospital, Taipei, Taiwan Corresponding Author Address and E-mail: Jer-Yuarn Wu, Ph.D., Department of Medical Research and Medical Genetics, China Medical College Hospital, 2 Yuh Der Road, Taichung 404, Taiwan; E-mail: juwu@hpd.cmch.org.tw Title : A novel in-frame deletion mutation (c106-111del) identified in a Taiwan Chinese patient with type IVA mucopolysaccharidosis Keywords: Mucopolysaccharidosis IVA, N-acetylgalactosamine-6-sulfate sulfatase, GALNS Species: Homo Sapiens Change is: mutation Gene/Locus Name: N-acetylgalactosamine-6-sulfate sulfatase Symbol: GALNS Genbank accession number: NM_000512 OMIM accession number: 253000 Locus specific database: Chromosomal location: 16q24 Inheritance: Germline; recessive Mutation / polymorphism name Nucleotide change-systematic name: c106-111del Amino acid change-trivial name: L36-L37del Mutation / polymorphism type: deletion Polymorphism frequency: N/A Detection method: Direct sequencing PCR products Detection conditions: PCR and sequencing primers: OMF139 and OMF110 (Ogawa et al., 1995) PCR condition: 94°C for 2 min; 35 cycles of 94°C for 20 sec, 55°C for 20 sec and 72°C for 40 sec; and 72°C for 10 min. Electrophoresis: ABI Prism 377 DNA sequencer Diagnosis method developed: Evidence for existence and effect of mutation: Yes No Don’t know 1.. Base change found on repeat PCR sample X 2. Article Title: Study on the Retreatment, Outcome, and Potential Predictors of Recurrence in Patients With Recurrence of Hepatitis B After Functional Cure Article Snippet: AFP was detected using Cobas E601 (Roche Diagnostics GmbH, Germany) analyzer, and the normal value was <7 ng/ml. .. Sequencing of the P and S regions of HBV was performed using the Electrophoresis:Article Title: A novel in-frame deletion mutation (c106-111del) identified in a Taiwan Chinese patient with type IVA mucopolysaccharidosis. Article Snippet: Nucleotide change-systematic name: c106-111del Amino acid change-trivial name: L36-L37del Mutation / polymorphism type: deletion Polymorphism frequency: N/A Detection method: Direct sequencing PCR products Detection conditions: PCR and sequencing primers: OMF139 and OMF110 (Ogawa et al., 1995) PCR condition: 94°C for 2 min; 35 cycles of 94°C for 20 sec, 55°C for 20 sec and 72°C for 40 sec; and 72°C for 10 min. Electrophoresis: ABI Prism 377 DNA sequencer Diagnosis method developed:. Authors: Chi-Fan Yang1, Fuu-Jen Tsai1,2,3 , Shuan-Pei Lin4, Cheng-Chun Lee1, and Jer-Yuarn Wu1,2* Affiliations: Department of Medical Research1, Medical Genetics2, and Pediatrics3, China Medical College Hospital, Taichung, Department of Pediatics4, Mackay Memorial Hospital, Taipei, Taiwan Corresponding Author Address and E-mail: Jer-Yuarn Wu, Ph.D., Department of Medical Research and Medical Genetics, China Medical College Hospital, 2 Yuh Der Road, Taichung 404, Taiwan; E-mail: juwu@hpd.cmch.org.tw Title : A novel in-frame deletion mutation (c106-111del) identified in a Taiwan Chinese patient with type IVA mucopolysaccharidosis Keywords: Mucopolysaccharidosis IVA, N-acetylgalactosamine-6-sulfate sulfatase, GALNS Species: Homo Sapiens Change is: mutation Gene/Locus Name: N-acetylgalactosamine-6-sulfate sulfatase Symbol: GALNS Genbank accession number: NM_000512 OMIM accession number: 253000 Locus specific database: Chromosomal location: 16q24 Inheritance: Germline; recessive Mutation / polymorphism name Nucleotide change-systematic name: c106-111del Amino acid change-trivial name: L36-L37del Mutation / polymorphism type: deletion Polymorphism frequency: N/A Detection method: Direct sequencing PCR products Detection conditions: PCR and sequencing primers: OMF139 and OMF110 (Ogawa et al., 1995) PCR condition: 94°C for 2 min; 35 cycles of 94°C for 20 sec, 55°C for 20 sec and 72°C for 40 sec; and 72°C for 10 min. Electrophoresis: ABI Prism 377 DNA sequencer Diagnosis method developed: Evidence for existence and effect of mutation: Yes No Don’t know 1.. Base change found on repeat PCR sample X 2. |
