A single mutation that results in an Asp to His substitution and partial exon skipping in a family with congenital contractural arachnodactyly

Human Genetics

Volumn 103, Issue 1, 1998, Pages 22-28

  Babcock, Darcie ^a   Gasner, Cheryll ^b   Francke, Uta ^b   Maslen, Cheryl ^a  

^a OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^b STANFORD UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ASPARTIC ACID; DNA; FIBRILLIN; HISTIDINE; MESSENGER RNA;

ADULT; AGED; AMINO ACID SUBSTITUTION; ARACHNODACTYLY; ARTICLE; CONSENSUS SEQUENCE; CONTROLLED STUDY; DNA SEQUENCE; EXON; FEMALE; FIBROBLAST CULTURE; HUMAN; HUMAN CELL; MISSENSE MUTATION; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

AGED; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ASPARTIC ACID; EPIDERMAL GROWTH FACTOR; EXONS; FEMALE; HISTIDINE; HUMANS; MALE; MARFAN SYNDROME; MICROFILAMENT PROTEINS; MOLECULAR SEQUENCE DATA; POINT MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; SEQUENCE ALIGNMENT; SEQUENCE DELETION; SEQUENCE HOMOLOGY, AMINO ACID; TRANSCRIPTION, GENETIC;

EID: 0031709809     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050777     Document Type: Article

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