A rare branch-point mutation is associated with missplicing of fibrillin-2 in a large family with congenital contractural arachnodactyly.

Maslen, C

A rare branch-point mutation is associated with missplicing of fibrillin-2 in a large family with congenital contractural arachnodactyly. [electronic resource] - American journal of human genetics Jun 1997 - 1389-98 p. digital

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

0002-9297

10.1086/515472 doi


Adult
Aged
Alternative Splicing
Base Sequence
Calcium-Binding Proteins--biosynthesis
Child
Connective Tissue Diseases--congenital
Contracture--congenital
DNA Primers
Female
Fibrillin-2
Fibrillins
Genes, Dominant
Genetic Linkage
Humans
Male
Microfilament Proteins--biosynthesis
Middle Aged
Pedigree
Point Mutation
Polymerase Chain Reaction
Syndrome