Marfan syndrome caused by a mutation in FBN1 that gives rise to cryptic splicing and a 33 nucleotide insertion in the coding sequence

Human Genetics

Volumn 109, Issue 4, 2001, Pages 416-420

  Hutchinson, Sarah ^a   Wordsworth, Paul B ^b   Handford, Penny A ^a  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b UNIVERSITY OF OXFORD   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; CALCIUM BINDING PROTEIN; COMPLEMENTARY DNA; EPIDERMAL GROWTH FACTOR; FIBRILLIN; FIBRILLIN 1; NUCLEOTIDE; RNA; UNCLASSIFIED DRUG;

ALLELE; ARTICLE; CASE REPORT; CELL LABELING; CONTROLLED STUDY; DNA SEQUENCE; FIBROBLAST; GENE INSERTION SEQUENCE; GENE ISOLATION; GENE MUTATION; GENETIC TRANSCRIPTION; HETERODUPLEX ANALYSIS; HETEROZYGOTE DETECTION; HUMAN; HUMAN CELL; INTRON; MARFAN SYNDROME; NUCLEOTIDE SEQUENCE; OPEN READING FRAME; PREDICTION; PRIORITY JOURNAL; PROTEIN SECRETION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA SPLICING;

ADULT; ALTERNATIVE SPLICING; AMINO ACID SEQUENCE; BASE SEQUENCE; CYSTEINE; DNA MUTATIONAL ANALYSIS; EXONS; FIBROBLASTS; HETERODUPLEX ANALYSIS; HUMANS; MALE; MARFAN SYNDROME; MICROFILAMENT PROTEINS; MOLECULAR SEQUENCE DATA; MUTAGENESIS, INSERTIONAL; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, MESSENGER;

EID: 0035172810     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390100573     Document Type: Article

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