FBN1 exon 2 splicing error in a patient with Marfan syndrome

American Journal of Medical Genetics

Volumn 101, Issue 2, 2001, Pages 130-134

  Guo, Dongchuan ^a   Tan, Filemon K ^a   Cantu, Andrea ^a   Plon, Sharon E ^b   Milewicz, Dianna M ^a  

^a UNIVERSITY OF TEXAS MEDICAL SCHOOL   (United States)

^b BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

FBN1; Fibrillin 1; Marfan syndrome; Microfibril

Indexed keywords

FIBRILLIN;

ADULT; ALLELE; AMINO TERMINAL SEQUENCE; ARTICLE; CASE REPORT; CHROMOSOME BAND; DNA SEQUENCE; EXTRACELLULAR MATRIX; FIBROBLAST CULTURE; FRAMESHIFT MUTATION; GENE MUTATION; HUMAN; MALE; MARFAN SYNDROME; NONSENSE MUTATION; PATHOGENESIS; PRIORITY JOURNAL; RNA SPLICING; SEQUENCE ANALYSIS; STOP CODON;

ADULT; ALTERNATIVE SPLICING; BASE SEQUENCE; DNA; DNA MUTATIONAL ANALYSIS; EXONS; FAMILY HEALTH; FEMALE; FRAMESHIFT MUTATION; HUMANS; MALE; MARFAN SYNDROME; MICROFILAMENT PROTEINS; MUTATION; PEDIGREE;

EID: 0035876860     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/1096-8628(20010615)101:2<130::AID-AJMG1333>3.0.CO;2-V     Document Type: Article

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