Browsing by Subject "protein polymorphism"
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New amino acid polymorphism, Ala/Val4058, in exon 45 of the polycystic kidney disease 1 gene: Evolution of alleles
(1997)The PKD1 gene, which is responsible for the most common form of autosomal dominant polycystic kidney disease, has recently been cloned and sequenced. Many disease-causing mutations have been characterized in this gene, ...