title: Molecular genetic analyses of cystinuria type 1 in 24 Turkish patients.
abstract: M467T mutation (exon 8) in rBAT gene is found to be the most common mutation in cystinuria type I patients. In our series consisting of 24 patients, the allele frequency of the M467T mutation was 8.3 percent (4/48). The second most frequent mutation at the same nucleotide position was M467K, with an allele frequency of 4.2 percent (2/48). The polymorphism which is found in linkage disequilibrium with the M467T is 231T/A (exon 1). We also found that 231T/A was associated with the M467T mutation in our series.
authors: Department of Medical Biology, Hacettepe University Faculty of Medicine, Ankara, Turkey.
authors: D
authors: D
authors: Dayangaç
authors: H S
authors: HS
authors: Kalkanoğlu
authors: S
authors: S
authors: Durmuş-Aydogdu
authors: H
authors: H
authors: Erdem
authors: N
authors: N
authors: Beşbaş
authors: T
authors: T
authors: Coşkun
mesh_terms: D026923:Amino Acid Transport Systems, Basic; D002352:Carrier Proteins / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D003555:Cystinuria / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics*; D009154:Mutation; D011110:Polymorphism, Genetic; D014421:Turkey
chemical_list: D026923:Amino Acid Transport Systems, Basic; D002352:Carrier Proteins; D008562:Membrane Glycoproteins; C499489:SLC7A9 protein, human