Mutations in the COL5A1 gene are causal in the Ehlers-Danlos syndromes I and II

American Journal of Human Genetics

Volumn 60, Issue 3, 1997, Pages 547-554

  De Paepe, Anne ^a   Nuytinck, Lieve ^a   Hausser, Ingrid ^b   Anton Lamprecht, Ingrun ^b   Naeyaert, Jean Marie ^a  

^a GHENT UNIVERSITY HOSPITAL   (Belgium)

^b UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CLINICAL ARTICLE; COLLAGEN DEFECT; DNA DETERMINATION; EHLERS DANLOS SYNDROME; FAMILY STUDY; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC LINKAGE; HUMAN; MALE; PRIORITY JOURNAL; RNA SPLICING; SKIN BIOPSY;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; ANIMALS; CELLS, CULTURED; COLLAGEN; CONSERVED SEQUENCE; CYSTEINE; EHLERS-DANLOS SYNDROME; FEMALE; HUMANS; LINKAGE (GENETICS); MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PROCOLLAGEN; SERINE; SKIN;

MUS MUSCULUS;

EID: 0031018512     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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