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 mutate...
Topics
- Alleles
- Amino Acid Sequence
- Amino Acid Transport Systems, Basic
- Amino Acids, Diamino
- Base Sequence
- Carrier Proteins
- Cystinuria
- DNA Primers
- Gene Frequency
- Genetic Variation
- Humans
- Membrane Glycoproteins
- Molecular Sequence Data