Dyssegmental dysplasia, Silverman-Handmaker type, is caused by functional null mutations of the perlecan gene

Nature Genetics

Volumn 27, Issue 4, 2001, Pages 431-434

  Arikawa Hirasawa, Eri ^a   Wilcox, William R ^b   Le, Alexander H ^a   Silverman, Neil ^b   Govindraj, Prasanthi ^c   Hassell, John R ^c   Yamada, Yoshihiko ^a  

^a NATIONAL INSTITUTE OF DENTAL AND CRANIOFACIAL RESEARCH   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c SHRINERS HOSPITALS FOR CHILDREN   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

HEPARAN SULFATE; PERLECAN; PROTEOGLYCAN;

ANIMAL CELL; ANTIBODY SPECIFICITY; ARTICLE; BASEMENT MEMBRANE; CARTILAGE DEGENERATION; DYSPLASIA; EXTRACELLULAR MATRIX; FIBROBLAST; GENE DUPLICATION; GENE MUTATION; MOUSE; NONHUMAN; NULL CELL; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

ANIMALS; HEPARAN SULFATE PROTEOGLYCANS; HUMANS; INFANT, NEWBORN; MALE; MICE; MICE, KNOCKOUT; MUTATION; OSTEOCHONDRODYSPLASIAS; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION;

ANIMALIA;

EID: 0035068499     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/86941     Document Type: Article

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