Article
SLC7A9 mutations in all three cystinuria subtypes.
Kidney international - 1 Nov 2002
Leclerc Daniel, Boutros Marylise, Suh Daniel, Wu Qing, Palacin Manuel, Ellis James R, Goodyer Paul, Rozen Rima
Abstract excerpt
BACKGROUND: Cystinuria is an inherited disorder of cystine and dibasic amino acid transport in kidney. Subtypes are defined by the urinary cystine excretion patterns of the obligate heterozygous parents: Type I/N (fully recessive or silent); Type II/N (high excretor); Type III/N (moderate excretor). The first gene implicated in cystinuria (SLC3A1) is associated with the Type I urinary phenotype. A second...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.