A NEW MISSENSE MUTATION OF FIBRILLIN IN A PATIENT WITH MARFAN-SYNDROME

Authors
HEWETT DR LYNCH JR CHILD A SYKES BC
Citation
Dr. Hewett et al., A NEW MISSENSE MUTATION OF FIBRILLIN IN A PATIENT WITH MARFAN-SYNDROME, Journal of Medical Genetics, 31(4), 1994, pp. 338-339
Citations number
23
Categorie Soggetti
Genetics & Heredity
Journal title
Journal of Medical Genetics → ACNP
ISSN journal
00222593
Volume
31
Issue
4
Year of publication
1994
Pages
338 - 339
Database
ISI
SICI code
0022-2593(1994)31:4<338:ANMMOF>2.0.ZU;2-U
Abstract
A patient with Marfan syndrome was shown to be heterozygous for a G to A transition at nucleotide 3952 of the FBNI gene. This would result i n a cysteine to tyrosine substitution at amino acid 1223 in the fibril lin protein.