Delineation of the Marfan Phenotype Associated with Mutations in Exons 23-32 of the FBN1 Gene

American Journal of Medical Genetics - Seminars in Medical Genetics

Volumn 62, Issue 3, 1996, Pages 233-242

  Putnam, Elizabeth A ^a   Cho, Mimi ^a   Zinn, Arthur B ^c   Towbin, Jeffrey A ^b   Byers, Peter H ^d   Milewicz, Dianna M ^a  

^a UNIVERSITY OF TEXAS MEDICAL SCHOOL   (United States)

^b BAYLOR COLLEGE OF MEDICINE   (United States)

^c CASE WESTERN RESERVE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d UNIVERSITY OF WASHINGTON   (United States)

Author keywords

FBN1; Fibrillin 1; Marfan syndrome; Neonatal marfan syndrome

Indexed keywords

FIBRILLIN;

ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; EXON; FEMALE; GENE MUTATION; HUMAN; MALE; MARFAN SYNDROME; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM; SYNDROME DELINEATION;

BASE SEQUENCE; CHILD, PRESCHOOL; DNA; DNA PRIMERS; EXONS; FATAL OUTCOME; FEMALE; HUMANS; INFANT; MALE; MARFAN SYNDROME; MICROFILAMENT PROTEINS; MOLECULAR SEQUENCE DATA; MUTATION; PHENOTYPE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL;

EID: 0029962419     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19960329)62:3<233::AID-AJMG7>3.0.CO;2-U     Document Type: Article

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