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Identification of novel pro-alpha 2(IX) collagen gene mutations in two families with distinctive olgo-epiphyseal forms of multiple epiphyseal dysplasia

Lookup NU author(s): Professor John LoughlinORCiD, Professor Michael Briggs

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Author(s): Holden P, Canty EG, Mortier GR, Zabel B, Spranger J, Carr A, Grant ME, Loughlin JA, Briggs MD

Publication type: Article

Publication status: Published

Journal: American Journal of Human Genetics

Year: 1999

Volume: 65

Issue: 1

Pages: 31-38

ISSN (print): 0002-9297

ISSN (electronic): 1537-6605

Publisher: Cell Press

URL: http://dx.doi.org/10.1086/302440

DOI: 10.1086/302440

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