Article
Biochemical and genetic analysis of a child with cystic fibrosis and cystinosis.
American journal of medical genetics - 1 Apr 1991
Smith M L, Pellett O L, Cahill T C, David D N, Kaskel F J, Smolin L A, Greene A A, Weissbecker K, Dean M, Schneider J A
Abstract excerpt
We have studied a child with cystic fibrosis (CF), nephropathic cystinosis, and manifestations of Bartter syndrome, a finding reported previously in both of these diseases (CF and cystinosis). The chance of an individual inheriting a mutant allele for both CF and cystinosis from each of his parents by independent segregation is very small. Therefore, other mechanisms of inheritance were investigated, including...
Topics
- Cysteine
- Cystic Fibrosis
- Cystinosis
- Female
- Humans
- Infant, Newborn
- Male
- Mutation
- Pedigree