TY  - GEN
AU  - Maslen,C
AU  - Babcock,D
AU  - Raghunath,M
AU  - Steinmann,B
TI  - A rare branch-point mutation is associated with missplicing of fibrillin-2 in a large family with congenital contractural arachnodactyly
SN  - 0002-9297
PY  - 1997///0710
KW  - Adult
KW  - Aged
KW  - Alternative Splicing
KW  - Base Sequence
KW  - Calcium-Binding Proteins
KW  - biosynthesis
KW  - Child
KW  - Connective Tissue Diseases
KW  - congenital
KW  - Contracture
KW  - DNA Primers
KW  - Female
KW  - Fibrillin-2
KW  - Fibrillins
KW  - Genes, Dominant
KW  - Genetic Linkage
KW  - Humans
KW  - Male
KW  - Microfilament Proteins
KW  - Middle Aged
KW  - Pedigree
KW  - Point Mutation
KW  - Polymerase Chain Reaction
KW  - Syndrome
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S
UR  - https://doi.org/10.1086/515472
ER  -