Clinical and Genetic Analysis of Patients with Cystinuria in the United Kingdom | Zendy

Hannah Rhodes | Zendy; Laura Yarram-Smith | Zendy; Sarah J. Rice | Zendy; Ayla Tabaksert | Zendy; Noel Edwards | Zendy; A. Hartley | Zendy; Mark N Woodward | Zendy; Sarah L. Smithson | Zendy; Charles Tomson | Zendy; Gavin I. Welsh | Zendy; Margaret Williams | Zendy; David T. Thwaites | Zendy; John A. Sayer | Zendy; Richard J. Coward | Zendy

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Clinical and Genetic Analysis of Patients with Cystinuria in the United Kingdom

Author(s) -

Hannah Rhodes,

Laura Yarram-Smith,

Sarah J. Rice,

Ayla Tabaksert,

Noel Edwards,

A. Hartley,

Mark N Woodward,

Sarah L. Smithson,

Charles Tomson,

Gavin I. Welsh,

Margaret Williams,

David T. Thwaites,

John A. Sayer,

Richard J. Coward

Publication year - 2015

Publication title -

clinical journal of the american society of nephrology

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.755

H-Index - 151

eISSN - 1555-905X

pISSN - 1555-9041

DOI - 10.2215/cjn.10981114

Subject(s) - cystinuria , medicine , sanger sequencing , cystine , allele , cohort , renal function , genetics , mutation , gastroenterology , pediatrics , gene , biology , biochemistry , cysteine , enzyme

Cystinuria is a rare inherited renal stone disease. Mutations in the amino acid exchanger System b(0,+), the two subunits of which are encoded by SLC3A1 and SLC7A9, predominantly underlie this disease. The work analyzed the epidemiology of cystinuria and the influence of mutations in these two genes on disease severity in a United Kingdom cohort.

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