A rare branch-point mutation is associated with missplicing of fibrillin-2 in a large family with congenital contractural arachnodactyly

American Journal of Human Genetics

Volumn 60, Issue 6, 1997, Pages 1389-1398

  Maslen, Cheryl ^a   Babcock, Darcie ^a   Raghunath, Michael ^b   Steinmann, Beat ^c  

^a OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^b UNIVERSITY OF MÜNSTER   (Germany)

^c UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

FIBRILLIN;

ALLELE; ARACHNODACTYLY; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CLINICAL FEATURE; DNA BASE COMPOSITION; EXON; GENE LOCUS; HUMAN; INTRON; MAJOR CLINICAL STUDY; MARFAN SYNDROME; MISSENSE MUTATION; PHENOTYPE; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

RAPHIA FRATER;

EID: 0030971763     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/515472     Document Type: Article

References (25)

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