TY  - GEN
AU  - Dietz,H C
AU  - Cutting,G R
AU  - Pyeritz,R E
AU  - Maslen,C L
AU  - Sakai,L Y
AU  - Corson,G M
AU  - Puffenberger,E G
AU  - Hamosh,A
AU  - Nanthakumar,E J
AU  - Curristin,S M
TI  - Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene
SN  - 0028-0836
PY  - 1991///0822
KW  - Adult
KW  - Amino Acid Sequence
KW  - Base Sequence
KW  - Fibrillins
KW  - Humans
KW  - Marfan Syndrome
KW  - genetics
KW  - Microfilament Proteins
KW  - Molecular Sequence Data
KW  - Mutation
KW  - Polymerase Chain Reaction
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S
UR  - https://doi.org/10.1038/352337a0
ER  -