Gene: [21q223/COL6A2] collagen, type VI, alpha 2; Bethlem myopathy;
PRO | Probe p8 contains a 1.4-kb 5'-fragment of cDNA cloned at EcoRI sitein the plasmid pUC19. It identifies the major signal at 3.5-kb level, that corresponds to the peptide product of about 140 kD, while hybridizing with the total poly(A+) mRNA (from fibroblasts)." |
REL | GEM:21q223/COL6A1; FAM:COLL/00.0. |
REF | MUT "Jobsis GJ &: Nature Genet, 14, N1, 113-115, 1996 LOC,FAG "Reston JT &: Genomics, 26, 31-38, 1995 GEN,STR "Trikka D &: Mammal Genome, 8, N5, 342-345, 1997 LOC,FAG "Weil D &: CCG, 46, (HGM9), 713, 1987 PRO,SEQ,LOC "see GEM:21q223/COL6A1 |
SWI | SWISSPROT: P12110 |
KEY | exce, mfd |
CLA | coding, basic |
LOC | 21 q22.3 |
MIM | MIM: 120240 |
