makima function Search Results


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gain of function of scn5a  (Makita)
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Genetic variations in the <t> SCN5A </t> gene and their frequency in Korean patients with sick sinus syndrome (N=30) and normal controls (N=80)
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macropatch  (Makita)
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Makita macropatch
Genetic variations in the <t> SCN5A </t> gene and their frequency in Korean patients with sick sinus syndrome (N=30) and normal controls (N=80)
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Image Search Results


Genetic variations in the SCN5A gene and their frequency in Korean patients with sick sinus syndrome (N=30) and normal controls (N=80)

Journal: Korean Circulation Journal

Article Title: Genetic Variation of SCN5A in Korean Patients with Sick Sinus Syndrome

doi: 10.4070/kcj.2016.46.1.63

Figure Lengend Snippet: Genetic variations in the SCN5A gene and their frequency in Korean patients with sick sinus syndrome (N=30) and normal controls (N=80)

Article Snippet: However, Makita et al. reported gain of function of SCN5A in one family with congenital atrial standstill similar to our study.

Techniques: Control

DNA sequencing analysis results of the newly discovered SCN5A gene variants in this study. (A) DNA sequencing results of SCN5A exon 17. A3075T is a heterozygous nucleotide change, and causes an amino acid change from glutamine to aspartate. (B) DNA sequencing results of SCN5A exon 28. T4847A is a heterozygous nucleotide change, and causes an amino acid change from phenylalanine to tyrosine. All DNA sequence electropherograms show non-synonymous nucleotide changes in the sick sinus syndrome patients.

Journal: Korean Circulation Journal

Article Title: Genetic Variation of SCN5A in Korean Patients with Sick Sinus Syndrome

doi: 10.4070/kcj.2016.46.1.63

Figure Lengend Snippet: DNA sequencing analysis results of the newly discovered SCN5A gene variants in this study. (A) DNA sequencing results of SCN5A exon 17. A3075T is a heterozygous nucleotide change, and causes an amino acid change from glutamine to aspartate. (B) DNA sequencing results of SCN5A exon 28. T4847A is a heterozygous nucleotide change, and causes an amino acid change from phenylalanine to tyrosine. All DNA sequence electropherograms show non-synonymous nucleotide changes in the sick sinus syndrome patients.

Article Snippet: However, Makita et al. reported gain of function of SCN5A in one family with congenital atrial standstill similar to our study.

Techniques: DNA Sequencing, Sequencing

Two variation sites (F1616Y and S1710L) within the 3D model of the SCN5A domain. F1616Y is located in the center of the second loop, which is well exposed, while the S1710L variation is located immediately following the 6th alpha helix.

Journal: Korean Circulation Journal

Article Title: Genetic Variation of SCN5A in Korean Patients with Sick Sinus Syndrome

doi: 10.4070/kcj.2016.46.1.63

Figure Lengend Snippet: Two variation sites (F1616Y and S1710L) within the 3D model of the SCN5A domain. F1616Y is located in the center of the second loop, which is well exposed, while the S1710L variation is located immediately following the 6th alpha helix.

Article Snippet: However, Makita et al. reported gain of function of SCN5A in one family with congenital atrial standstill similar to our study.

Techniques: