Identification of novel pro-α2(IX) collagen gene mutations in two families with distinctive oligo-epiphyseal forms of multiple epiphyseal dysplasia

American Journal of Human Genetics

Volumn 65, Issue 1, 1999, Pages 31-38

  Holden, Paul ^a   Canty, Elizabeth G ^a   Mortier, Geert R ^b   Zabel, Bernhard ^c   Spranger, Jurgen ^c   Carr, Andrew ^d   Grant, Michael E ^a   Loughlin, John A ^e   Briggs, Michael D ^a  

^a UNIVERSITY OF MANCHESTER   (United Kingdom)

^b GHENT UNIVERSITY HOSPITAL   (Belgium)

^c UNIVERSITY MEDICAL CENTER MAINZ   (Germany)

^d NUFFIELD ORTHOPAEDIC CENTRE   (United Kingdom)

^e JOHN RADCLIFFE HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

MESSENGER RNA; PROCOLLAGEN;

ADOLESCENT; ARTICLE; CALCIFYING CHONDRODYSTROPHY; CARTILAGE MATRIX; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; EXON; FAMILIAL DISEASE; FEMALE; GENE MUTATION; GENETIC HETEROGENEITY; HUMAN; HUMAN CELL; INTRON; MALE; PHENOTYPE; PRIORITY JOURNAL; RNA SPLICING;

EID: 0033358606     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302440     Document Type: Article

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