Fibrillln mutations in Marfan syndrome and related phenotypes.

doi:10.1016/s0959-437x(96)80007-4

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Article

Fibrillln mutations in Marfan syndrome and related phenotypes.

Current opinion in genetics & development - 1 Jun 1996

Ramirez F

Abstract excerpt

A casual association has been established between mutations in the fibrillin 1 gene and Marfan syndrome and related phenotypes. Analysis of mutations in these disease types has provided new insights into microfibril assembly and function. These include evidence for a mutation in a fibrillin 1 dom...

Topics

Animals
Fibrillin-1
Fibrillin-2
Fibrillins
Humans
Marfan Syndrome
Microfilament Proteins
Muscle Fibers, Skeletal
Mutation
Phenotype

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