Clustering of fibrillin (FBN1) missense mutations in Marfan syndrome patients at cysteine residues in EGF-like domains.

Dietz, H C

Clustering of fibrillin (FBN1) missense mutations in Marfan syndrome patients at cysteine residues in EGF-like domains. [electronic resource] - Human mutation 1992 - 366-74 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.

1059-7794

10.1002/humu.1380010504 doi


Amino Acid Sequence
Base Sequence
Cysteine--genetics
DNA--genetics
DNA Mutational Analysis
Epidermal Growth Factor--genetics
Fibrillin-1
Fibrillins
Humans
Marfan Syndrome--genetics
Microfilament Proteins--chemistry
Molecular Sequence Data
Molecular Structure
Phenotype
Polymerase Chain Reaction
Polymorphism, Genetic
Repetitive Sequences, Nucleic Acid