A splice-junction mutation in the region of COL5A1 that codes for the carboxyl propeptide of proα1(V) chains results in the gravis form of the Ehlers-Danlos syndrome (type I)

Human Molecular Genetics

Volumn 5, Issue 11, 1996, Pages 1733-1736

  Wenstrup, Richard J ^a   Langland, Gregory T ^a   Willing, Marcia C ^b   D'Souza, Vinita N ^c   Cole, William G ^c  

^a CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

^b UNIVERSITY OF IOWA   (United States)

^c HOSPITAL FOR SICK CHILDREN RESEARCH INSTITUTE   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN TYPE 5; PEPTIDE;

ADULT; ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; COLLAGEN SYNTHESIS; CONNECTIVE TISSUE; CONTROLLED STUDY; DNA POLYMORPHISM; EHLERS DANLOS SYNDROME; EXON; FEMALE; GENE DELETION; GENE LOCUS; GENE MUTATION; GENETIC LINKAGE; HETEROZYGOTE; HUMAN; HUMAN CELL; INTRAGASTRIC DRUG ADMINISTRATION; INTRON; JOINT HYPERMOBILITY; MALE; PRIORITY JOURNAL; PROTEIN STRUCTURE; SKIN DISEASE; SKIN SCAR;

ADOLESCENT; ADULT; COLLAGEN; EHLERS-DANLOS SYNDROME; EXONS; FEMALE; GENOTYPE; HUMANS; INFANT, NEWBORN; LINKAGE (GENETICS); MALE; MIDDLE AGED; PEDIGREE; POLYMORPHISM, GENETIC; PROCOLLAGEN; RNA SPLICING; SEQUENCE DELETION;

EID: 0029806968     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/5.11.1733     Document Type: Article

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