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Pedigree and mutation analysis of the family. (A) Pedigrees of the GS families. The square represents male, and the circle represents female. The arrow represents the proband. The shaded symbol represents a homozygous (HOM) patient, the unshaded symbol represents wild-type (WT) individuals, and the half-shaded symbol represents a heterozygous patient. Draw a diagonal line through the square or circle represents the member is deceased. Age (B) and Body Mass Index (BMI) (C) of GS homozygous patients ( n = 5) and wild type individuals ( n = 7), ** p < 0.01. (D) Sanger <t>sequencing</t> validation of the SLC12A3 mutation (c.1262G > T) in the GS patients.
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Pedigree and mutation analysis of the family. (A) Pedigrees of the GS families. The square represents male, and the circle represents female. The arrow represents the proband. The shaded symbol represents a homozygous (HOM) patient, the unshaded symbol represents wild-type (WT) individuals, and the half-shaded symbol represents a heterozygous patient. Draw a diagonal line through the square or circle represents the member is deceased. Age (B) and Body Mass Index (BMI) (C) of GS homozygous patients ( n = 5) and wild type individuals ( n = 7), ** p < 0.01. (D) Sanger <t>sequencing</t> validation of the SLC12A3 mutation (c.1262G > T) in the GS patients.
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Pedigree and mutation analysis of the family. (A) Pedigrees of the GS families. The square represents male, and the circle represents female. The arrow represents the proband. The shaded symbol represents a homozygous (HOM) patient, the unshaded symbol represents wild-type (WT) individuals, and the half-shaded symbol represents a heterozygous patient. Draw a diagonal line through the square or circle represents the member is deceased. Age (B) and Body Mass Index (BMI) (C) of GS homozygous patients ( n = 5) and wild type individuals ( n = 7), ** p < 0.01. (D) Sanger sequencing validation of the SLC12A3 mutation (c.1262G > T) in the GS patients.

Journal: Renal Failure

Article Title: Serum metabolic profiling analysis of Gitelman syndrome using untargeted metabolomics

doi: 10.1080/0886022X.2026.2662094

Figure Lengend Snippet: Pedigree and mutation analysis of the family. (A) Pedigrees of the GS families. The square represents male, and the circle represents female. The arrow represents the proband. The shaded symbol represents a homozygous (HOM) patient, the unshaded symbol represents wild-type (WT) individuals, and the half-shaded symbol represents a heterozygous patient. Draw a diagonal line through the square or circle represents the member is deceased. Age (B) and Body Mass Index (BMI) (C) of GS homozygous patients ( n = 5) and wild type individuals ( n = 7), ** p < 0.01. (D) Sanger sequencing validation of the SLC12A3 mutation (c.1262G > T) in the GS patients.

Article Snippet: Whole-exome sequencing (WES) was performed on all patients using the MGISEQ-2000 platform (MGI Tech) and validated by Sanger sequencing.

Techniques: Mutagenesis, Sequencing, Biomarker Discovery