Article
Molecular genetics of cystinuria in French Canadians: identification of four novel mutations in type I patients.
Kidney international - 1 May 1996
Horsford J, Saadi I, Raelson J, Goodyer P R, Rozen R
Abstract excerpt
Cystinuria, a hereditary disorder of cystine and dibasic amino acid reabsorption, has been classified into three subtypes on the basis of urinary excretion in obligate heterozygous parents. Thirteen cystinuric patients, identified primarily through the Quebec newborn urinary screening program, we...
Topics
- Amino Acid Transport Systems, Basic
- Base Sequence
- Biological Transport, Active
- Carrier Proteins
- Child, Preschool
- Cystine
- Cystinuria
- DNA
- DNA Mutational Analysis
- DNA Primers
- Female
- Humans
- Infant
- Infant, Newborn
- Male
- Membrane Glycoproteins
- Molecular Biology
- Molecular Sequence Data