Genetic heterogeneity in patients with Bartter syndrome type 1

Bartter syndrome (BS) type 1 is an autosomal recessive kidney disorder caused by loss-of-function mutations in the solute carrier family 12 member 1 (SLC12A1) gene. To date, 72 BS type 1 patients harboring SLC12A1 mutations have been documented. Of these 144 alleles studied, 68 different disease-cau...

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Veröffentlicht in:	Molecular medicine reports 2017-02, Vol.15 (2), p.581-590
Hauptverfasser:	Sun, Mingran, Ning, Jing, Xu, Weihong, Zhang, Han, Zhao, Kaishu, Li, Wenfu, Li, Guiying, Li, Shibo
Format:	Artikel
Sprache:	eng
Schlagworte:	Alleles Bartter Syndrome - genetics Bartter Syndrome - pathology Bartter syndrome type 1 Base Sequence Care and treatment Comparative Genomic Hybridization deletion Deoxyribonucleic acid DNA DNA - chemistry DNA - isolation & purification DNA - metabolism DNA Mutational Analysis DNA sequencing Exons Frameshift mutation Gene deletion Gene mutation Genes Genetic Heterogeneity Genetic testing Genomes Genotype Hereditary diseases heterozygous deletion Humans Hyperaldosteronism Kidneys Mutation Nucleotides Polymerase Chain Reaction Polymorphism, Genetic solute carrier family 12 member 1 Solute Carrier Family 12, Member 1 - genetics Splicing White people
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