Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene

Nature

Volumn 352, Issue 6333, 1991, Pages 337-339

  Dietz, Harry C ^a   Cutting, Carry R ^a   Pyeritz, Reed E ^a   Maslen, Cheryl L ^b   Sakai, Lynn Y ^b   Corson, Glen M ^b   Puffenberger, Erik G ^a   Hamosh, Ada ^a   Nanthakumar, Elizabeth J ^a   Curristin, Sheila M ^a   Stetten, Gail ^a   Meyers, Deborah A ^a   Francomano, Clair A ^a  

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

FIBRILLIN;

ARTICLE; CHROMOSOME 15; CLINICAL ARTICLE; GENE; HUMAN; MARFAN SYNDROME; MUTATION; PRIORITY JOURNAL;

ADULT; AMINO ACID SEQUENCE; BASE SEQUENCE; HUMAN; MARFAN SYNDROME; MICROFILAMENT PROTEINS; MOLECULAR SEQUENCE DATA; MUTATION; POLYMERASE CHAIN REACTION; SUPPORT, NON-U.S. GOV'T; SUPPORT, U.S. GOV'T, P.H.S.;

EID: 0025886783     PISSN: 00280836     EISSN: None     Source Type: Journal    
DOI: 10.1038/352337a0     Document Type: Article

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