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Functional analysis of mutations in SLC7A9, and genotype-phenotype correlation in non-Type I cystinuria
HUMAN MOLECULAR GENETICS
Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (b(o,+)AT) of rBAT
NATURE GENETICS
Identification of SLC7A7, encoding y(+)LAT-1, as the lysinuric protein intolerance gene
NATURE GENETICS
Recombinant families locate the gene for non-type I cystinuria between markers C13 and D19S587 on chromosome 19q13.1
GENOMICS
LOCALIZATION, BY LINKAGE ANALYSIS, OF THE CYSTINURIA TYPE-III GENE TOCHROMOSOME 19Q13.1
American journal of human genetics