Search for mutations in SLC1A5 (19q13) in cystinuria patients

Journal of Inherited Metabolic Disease

Volumn 28, Issue 6, 2005, Pages 1169-1171

  Brauers, E ^a   Vester, U ^b   Zerres, K ^a   Eggermann, T ^a  

^a UNIVERSITY HOSPITAL RWTH AACHEN   (Germany)

^b UNIVERSITY HOSPITAL ESSEN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHROMOSOME 19Q; CYSTINURIA; FAMILY STUDY; GENE IDENTIFICATION; GENETIC LINKAGE; GENETIC SCREENING; GENETIC VARIABILITY; HUMAN; MOLECULAR GENETICS; MUTATIONAL ANALYSIS; PATHOGENESIS;

ADOLESCENT; AMINO ACID TRANSPORT SYSTEM ASC; CHROMOSOMES, HUMAN, PAIR 19; CYSTEINE; CYSTINURIA; FAMILY HEALTH; GENE EXPRESSION REGULATION; HUMANS; INFANT; LINKAGE (GENETICS); MUTATION; POLYMERASE CHAIN REACTION;

EID: 31644444885     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-005-0094-x     Document Type: Article

References (9)

1. Bisceglia L, Calonge MJ, Totaro A, et al (1997) Localization, by linkage analysis, of the cystinuria type III gene to chromosome 19q13.1. Am J Hum Genet 60: 611-616.
2. Botzenhart E, Vester U, Schmidt C, et al (2002) Cystinuria in children: Distribution and frequencies of mutations in the SLC3A1 and SLC7A9 genes. Kidney Int 62: 1136-1142.
3. Font-Llitjos M, Jimenez-Vidal M, Bisceglia L, et al (2005) New insights into cystinuria: 40 new mutations, genotype-phenotype correlation, and digenic inheritance causing partial phenotype. J Med Genet 42: 58-68.
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6. Pras E, Arber N, Aksentijevich I, et al (1994) Localization of a gene causing cystinuria to chromosome 2p. Nature Genetics 6: 415-418.
7. Schmidt C, Vester U, Hesse A, et al (2004a) The population-specific distribution and frequencies of genomic variants in the SLC3A1 and SLC7A9 genes and their application in molecular genetic testing of cystinuria. Urol Res 32: 75-78.
8. Schmidt C, Vester U, Zerres K, Eggermann T (2004b) No evidence for a role of SLC7A10 in 19q13 in the etiology of cystinuria. Clin Nephrol 62: 71-73.
9. Wartenfeld R, Golomb E, Katz G, et al (1997) Molecular analysis of cystinuria in Libyan Jews: Exclusion of the SLC3A1 gene and mapping of a new locus on 19q. Am J Hum Genet 60: 617-624.