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Article

Molecular genetics of cystinuria: identification of four new mutations and seven polymorphisms, and evidence for genetic heterogeneity.

American journal of human genetics - 1 Oct 1995

Gasparini P, Calonge M J, Bisceglia L, Purroy J, Dianzani I, Notarangelo A, Rousaud F, Gallucci M, Testar X, Ponzone A

Abstract excerpt

A cystinuria disease gene (rBAT) has been recently identified, and some mutations causing the disease have been described. The frequency of these mutations has been investigated in a large sample of 51 Italian and Spanish cystinuric patients. In addition, to identify new mutated alleles, genomic DNA has been analyzed by an accurate and sensitive method able to detect nucleotide changes. Because of the lack of...

Topics

Alleles
Base Sequence
Cystinuria
DNA
Genetic Heterogeneity
Genotype
Humans
Italy
Molecular Sequence Data
Mutation
Phenotype

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Polymorphism, Genetic

Polymorphism, Single-Stranded Conformational

Spain

Source

Open in PubMed Open full text

Identifiers

PMID: 7573036
PMCID: PMC1801520

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7573036-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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