Article
Molecular analysis of the cystinuria disease gene: identification of four new mutations, one large deletion, and one polymorphism.
Human genetics - 1 Oct 1996
Bisceglia L, Calonge M J, Dello Strologo L, Rizzoni G, de Sanctis L, Gallucci M, Beccia E, Testar X, Zorzano A, Estivill X, Zelante L, Palacin M, Gasparini P, Nunes V
Abstract excerpt
A cystinuria disease gene (rBAT) has recently been identified, but evidence strongly suggests that only Type-I cystinuria is due to mutations in this gene. Sixteen point mutations and a large deletion causing the disease have so far been described in the rBAT gene sequence. To identify new mutated alleles, genomic DNA was analyzed, after the determination of the entire genomic structure of the rBAT gene, by...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.