Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Identification of novel SLC3A1 gene mutations in Spanish cystinuria families and association with clinical phenotypes.

Clinical genetics - 1 Mar 2005

Guillén M, Corella D, Cabello M L, González J I, Sabater A, Chaves J F, Hernández-Yago J

Abstract excerpt

Cystinuria is an inherited metabolic disease characterized by an abnormal urinary excretion of cystine and dibasic amino acids, leading to kidney stone formation. Incidence of cystinuria in the Mediterranean Spanish population is one of the highest in the world. In view of the low prevalence of previously reported mutations in the SLC3A1 gene, analyses to identify novel variants were carried out on 20 cystinuria...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Amino Acid Transport Systems, Basic
Share to Amino Acid Transport Systems, Neutral

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Cystinuria

Share to DNA Mutational Analysis

Share to Pedigree

Share to Polymerase Chain Reaction

Source

Identifiers

PMID: 15691362
DOI: 10.1111/j.1399-0004.2004.00393.x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification of novel SLC3A1 gene mutations in Spanish cystinuria families and association with clinical phenotypes.PMID 15691362Read ↗

Mutations in the SLC3A1 gene in cystinuric patients: frequencies and identification of a novel mutation.Semantic proximity Read ↗

Identification of 12 novel mutations in the SLC3A1 gene in Swedish cystinuria patients.Semantic proximity Read ↗

Identification of novel cystinuria mutations and polymorphisms in SLC3A1 and SLC7A9 genes: absence of SLC7A10 gene mutations in cystinuric patients.Semantic proximity Read ↗

Association between M467T and 114 C-->A variants within the SLC3A1 gene and some phenotypical traits in cystinuria patients from Spain.Semantic proximity Read ↗

Molecular genetic analysis of SLC3A1 and SLC7A9 genes in Czech and Slovak cystinuric patients.Semantic proximity Read ↗

Clinical, biochemical and molecular characterization of cystinuria in a cohort of 12 patients.Semantic proximity Read ↗

Molecular characterization of cystinuria in south-eastern European countries.Semantic proximity Read ↗

Genomic and functional investigations of mutations of the SLC3A1 gene in cystinuria.Semantic proximity Read ↗

The population-specific distribution and frequencies of genomic variants in the SLC3A1 and SLC7A9 genes and their application in molecular genetic testing of cystinuria.Semantic proximity Read ↗

Twenty-four novel mutations identified in a cohort of 85 patients by direct sequencing of the SLC3A1 and SLC7A9 cystinuria genes.Semantic proximity Read ↗

Mutation analysis of SLC7A9 in cystinuria patients in Sweden.Semantic proximity Read ↗

Clinical Characteristics and In Silico Analysis of Cystinuria Caused by a Novel SLC3A1 Mutation.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.