Gene: [01p3/COL9A2] collagen, type IX, alpha 2 (cartilage-specific short); epiphyseal dysplasia, multiple 2 (MIM:600204); [EDM2 ]


CAG

See GEM:19p131/COMP.

REF

LIN,LOC "Briggs MD &: AJHG, 55, 678-684, 1994
LOC,MAP "Hellsten E &: Genomics, 25, 404-412, 1995
MUT,PAT "Muragaki Y &: Nature Genet, 12, 103-105, 1996
CLO,SEQ,LOC "Perala M &: FEBS Lett, 319, 177-180, 1993
CLO,SEQ,LOC "Warman ML &: Genomics, 23, 158-162, 1994

KEY

exce, devd

CLA

coding, basic

LOC

01 p33-32.3

MIM

MIM: 120260

SYN

EDM2

Смотрите также:

  • Коллаген: мутации