Molecular genetics of cystinuria: Mutation analysis of SLC3A1 and evidence for another gene in the Type I (silent) phenotype

Kidney International

Volumn 54, Issue 1, 1998, Pages 48-55

  Saadi, Irfan ^b   Chen, Xing Zhen ^b   Hediger, Matthias ^b   Ong, Patricia ^b   Pereira, Perpetual ^b   Goodyer, Paul ^b   Rozen, Rima ^a  

^a RESEARCH INSTITUTE OF THE MCGILL UNIVERSITY HEALTH CENTRE   (Canada)

^b NONE

Author keywords

Allelic variation; Amino acids; Gene mapping; Inherited disorders; Obligate heterozygotes; Transport

Indexed keywords

AMINO ACID SUBSTITUTION; ARTICLE; CLINICAL ARTICLE; CYSTINURIA; DISEASE CLASSIFICATION; GENE LOCUS; HUMAN; HUMAN CELL; MISSENSE MUTATION; MOLECULAR GENETICS; PHENOTYPE; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM; SITE DIRECTED MUTAGENESIS; SOUTHERN BLOTTING; URINARY EXCRETION;

EID: 0031807024     PISSN: 00852538     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1523-1755.1998.00956.x     Document Type: Article

References (25)

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