Partial COL1A2 gene duplication produces features of osteogenesis imperfecta and Ehlers-Danlos syndrome type VII

Human Genetics

Volumn 106, Issue 1, 2000, Pages 19-28

  Raff, Michael L ^a,b   Craigen, William J ^c   Smith, Lynne T ^b   Keene, Douglas R ^d   Byers, Peter H ^b  

^a UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF WASHINGTON   (United States)

^c BAYLOR COLLEGE OF MEDICINE   (United States)

^d SHRINERS HOSPITAL FOR CHILDREN   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN FIBRIL; COLLAGEN TYPE 1;

ARTICLE; CASE REPORT; CHILD; EHLERS DANLOS SYNDROME; ELECTRON MICROSCOPY; EXON; GENE DUPLICATION; HUMAN; LETHAL MUTANT; MALE; MISSENSE MUTATION; OSTEOGENESIS IMPERFECTA; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SKIN FIBROBLAST; TRIPLE HELIX;

BASE SEQUENCE; BIOPSY; CELLS, CULTURED; COLLAGEN; EHLERS-DANLOS SYNDROME; FATHERS; FIBROBLASTS; GENE DUPLICATION; HUMANS; INFANT; MALE; MOLECULAR SEQUENCE DATA; MOTHERS; OSTEOGENESIS IMPERFECTA; PHENOTYPE; POLYMORPHISM, GENETIC; PROCOLLAGEN; SEQUENCE HOMOLOGY, NUCLEIC ACID; SKIN;

MAMMALIA;

EID: 0034071189     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390051004     Document Type: Article

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