|
rdf:type |
|
|
lifeskim:mentions |
|
|
pubmed:issue |
5
|
|
pubmed:dateCreated |
2002-10-9
|
|
pubmed:abstractText |
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 cystinuria gene (SLC7A9) was recently isolated, and mutations of this gene were associated with dominant (non-Type I) cystinuria alleles. Here we report genotype-phenotype studies of SLC7A9 mutations in a cohort of well-characterized cystinuria probands and their family members.
|
|
pubmed:language |
eng
|
|
pubmed:journal |
|
|
pubmed:citationSubset |
IM
|
|
pubmed:chemical |
|
|
pubmed:status |
MEDLINE
|
|
pubmed:month |
Nov
|
|
pubmed:issn |
0085-2538
|
|
pubmed:author |
|
|
pubmed:issnType |
Print
|
|
pubmed:volume |
62
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
|
pubmed:pagination |
1550-9
|
|
pubmed:dateRevised |
2006-11-15
|
|
pubmed:meshHeading |
pubmed-meshheading:12371955-Adult,
pubmed-meshheading:12371955-Alternative Splicing,
pubmed-meshheading:12371955-Amino Acid Transport Systems, Basic,
pubmed-meshheading:12371955-Base Sequence,
pubmed-meshheading:12371955-Carrier Proteins,
pubmed-meshheading:12371955-Child,
pubmed-meshheading:12371955-Codon, Nonsense,
pubmed-meshheading:12371955-Cystinuria,
pubmed-meshheading:12371955-Female,
pubmed-meshheading:12371955-Gene Deletion,
pubmed-meshheading:12371955-Genotype,
pubmed-meshheading:12371955-Humans,
pubmed-meshheading:12371955-Male,
pubmed-meshheading:12371955-Membrane Glycoproteins,
pubmed-meshheading:12371955-Molecular Sequence Data,
pubmed-meshheading:12371955-Mutation, Missense,
pubmed-meshheading:12371955-Phenotype
|
|
pubmed:year |
2002
|
|
pubmed:articleTitle |
SLC7A9 mutations in all three cystinuria subtypes.
|
|
pubmed:affiliation |
Department of Human Genetics, McGill University-Montreal Children's Hospital, Montreal, Quebec,Canada.
|
|
pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
|
