Mutations in the SLC3A1 Transporter Gene in Cystinuria

Cystinuria is an autosomal recessive disease characterized by the development of kidney stones. Guided by the identification of the SLC3A1 amino acid–transport gene on chromosome 2, we recently established genetic linkage of cystinuria to chromosome 2p in 17 families, without evidence for locus hete...

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Main Authors: Pras, Elon, Raben, Nina, Golomb, Eliahu, Arber, Nadir, Aksentijevich, Ivona, Schapiro, Jonathan M., Harel, Daniela, Katz, Giora, Liberman, Uri, Pras, Mordechai, Kastner, Daniel L.
Formáid: Artigo
Teanga:Inglês
Foilsithe: 1995
Ábhair:
Original Articles
Rochtain Ar Líne:https://ncbi.nlm.nih.gov/pmc/articles/PMC1801089/
https://ncbi.nlm.nih.gov/pubmed/7539209
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