Clustering of FBN2 mutations in patients with congenital contractural arachnodactyly indicates an important role of the domains encoded by exons 24 through 34 during human development

American Journal of Medical Genetics

Volumn 78, Issue 4, 1998, Pages 350-355

  Park, Eun Sook ^a   Putnam, Elizabeth A ^a   Chitayat, David ^b   Child, Anne ^c   Milewicz, Dianna M ^a  

^a UNIVERSITY OF TEXAS MEDICAL SCHOOL   (United States)

^b HOSPITAL FOR SICK CHILDREN   (Canada)

^c ST GEORGE'S UNIVERSITY OF LONDON   (United Kingdom)

Author keywords

Congenital contractural arachnodactyly; FBN1; FBN2; Fibrillin; Marfan syndrome; Microfibrils

Indexed keywords

DNA; FIBRILLIN;

ADULT; AORTA ANOMALY; ARACHNODACTYLY; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CONTROLLED STUDY; DNA SEQUENCE; EXON; FEMALE; GENE MUTATION; HUMAN; HUMAN CELL; HUMAN TISSUE; JOINT CONTRACTURE; MALE; MARFAN SYNDROME; MITRAL VALVE PROLAPSE; PRESCHOOL CHILD; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SCOLIOSIS; SKIN BIOPSY; SKIN FIBROBLAST;

ADULT; ALLELES; AMINO ACID SUBSTITUTION; CHILD; CONTRACTURE; EXONS; FEMALE; FIBROBLASTS; GENES, DOMINANT; GENETIC SCREENING; HUMANS; INFANT; MALE; MARFAN SYNDROME; MICROFILAMENT PROTEINS; MIDDLE AGED; MOSAICISM; MUTATION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; SCOLIOSIS;

EID: 0031928173     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19980724)78:4<350::AID-AJMG9>3.0.CO;2-P     Document Type: Article

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