Gene: [21q223/COL6A1] collagen, type VI, alpha 1; Bethlem myopathy;
PRO | Probe p18 contains a 2.1-kb 5'-fragment of cDNA cloned at EcoRI site in the plasmid pUC19. It identifies the major signal at 4.2-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/COL6A2. |
REF | PRO,SEQ "Chu M-L &:
Eur J Biochem, 168, N2, 309-317, 1987 MUT "Jobsis GJ &: Nature Genet, 14, N1, 113-115, 1996 MUT "Lamande SR &: Hum Mol Genet, 7, N6, 981-989, 1998 LOC,LIN,MAF,FAG "Reston JT &: Genomics, 26, 31-38, 1995 GEN,STR "Trikka D &: Mammal Genome, 8, N5, 342-345, 1997 MEB "Wegrowski &: BBA, 1039, N2, 189-196, 1990 PRO,SEQ,EXP,LOC "Weil D &: AJHG, 42, 435-445, 1988 LOC,MOL,FAG "Weil D &: CCG, 46, (HGM9), 713, 1987 |
SWI | SWISSPROT: P12109 |
KEY | exce, mfd |
CLA | coding, basic |
LOC | 21 q22.3 |
MIM | MIM: 120220 |
