Clinical, biochemical and molecular characterization of Cystinuria in a cohort of 12 patients-Reference-Cited by-同舟云学术

Clinical, biochemical and molecular characterization of Cystinuria in a cohort of 12 patients

Published:2011-02-14 Issue:1 Volume:81 Page:47-55
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:

Author:

Barbosa M,Lopes A,Mota C,Martins E,Oliveira J,Alves S,De Bonis P,do Céu Mota M,Dias C,Rodrigues-Santos P,Fortuna AM,Quelhas D,Lacerda L,Bisceglia L,Cardoso ML

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.2011.01638.x/fullpdf

Reference27 articles.

1. New insights into cystinuria: 40 new mutations, genotype-phenotype correlation, and digenic inheritance causing partial phenotype.;Font-Llitjos;J Med Genet,2005

2. Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT.;Feliubadalo;Nat Genet,1999

3. Cystinuria caused by mutations in rBAT, a gene involved in the transport of cystine.;Calonge;Nat Genet,1994

4. The genetics of heteromeric aminoacid trasnporters.;Palacin;Physiology,2005

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