A mutation in the gene encoding the alpha 2 chain of the fibril-associated collagen IX, COL9A2, causes multiple epiphyseal dysplasia (EDM2).
作者信息
Muragaki Y, Mariman E C, van Beersum S E, Perälä M, van Mourik J B, Warman M L, Olsen B R, Hamel B C
机构信息
Department of Cell Biology, Harvard Medical School, Boston, Massachusetts 02115, USA.
出版信息
Nat Genet. 1996 Jan;12(1):103-5. doi: 10.1038/ng0196-103.
PMID:8528240
Abstract
摘要
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