Multiple mutations in highly conserved residues are found in mildly affected cystic fibrosis patients.

doi:10.1016/0092-8674(90)90196-l

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Article

Multiple mutations in highly conserved residues are found in mildly affected cystic fibrosis patients.

Cell - 1 Jun 1990

Dean M, White M B, Amos J, Gerrard B, Stewart C, Khaw K T, Leppert M

Abstract excerpt

We have identified three different point mutations in the coding region of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Each mutation segregates with the disease in two- or three-generation pedigrees and is not found on the normal chromosome of any documented cystic fibros...

Topics

Adenosine Triphosphate
Adult
Amino Acid Sequence
Animals
Base Sequence
Binding Sites
Carrier Proteins
Child
Child, Preschool
Cystic Fibrosis
DNA
Female
Humans
Infant
Infant, Newborn
Male
Mice
Mice, Inbred BALB C

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