| 000 | 01818 a2200529 4500 | ||
|---|---|---|---|
| 005 | 20250514072747.0 | ||
| 264 | 0 | _c20030924 | |
| 008 | 200309s 0 0 eng d | ||
| 022 | _a0002-9297 | ||
| 024 | 7 |
_a10.1086/377107 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aPan, Te-Cheng | |
| 245 | 0 | 0 |
_aNew molecular mechanism for Ullrich congenital muscular dystrophy: a heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype. _h[electronic resource] |
| 260 |
_bAmerican journal of human genetics _cAug 2003 |
||
| 300 |
_a355-69 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S. | ||
| 650 | 0 | 4 | _aAmino Acid Sequence |
| 650 | 0 | 4 | _aBase Sequence |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 |
_aCollagen Type VI _xchemistry |
| 650 | 0 | 4 |
_aDNA, Complementary _xgenetics |
| 650 | 0 | 4 | _aDimerization |
| 650 | 0 | 4 | _aExons |
| 650 | 0 | 4 |
_aExtracellular Matrix _xchemistry |
| 650 | 0 | 4 |
_aFibroblasts _xchemistry |
| 650 | 0 | 4 | _aGenes, Dominant |
| 650 | 0 | 4 | _aGenotype |
| 650 | 0 | 4 | _aHeterozygote |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aIntrons |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMolecular Sequence Data |
| 650 | 0 | 4 |
_aMuscles _xmetabolism |
| 650 | 0 | 4 |
_aMuscular Dystrophies _xcongenital |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 | _aProtein Structure, Tertiary |
| 650 | 0 | 4 |
_aRNA, Messenger _xgenetics |
| 650 | 0 | 4 | _aSequence Deletion |
| 650 | 0 | 4 | _aSequence Homology, Nucleic Acid |
| 700 | 1 | _aZhang, Rui-Zhu | |
| 700 | 1 | _aSudano, Dominick G | |
| 700 | 1 | _aMarie, Suely K | |
| 700 | 1 | _aBönnemann, Carsten G | |
| 700 | 1 | _aChu, Mon-Li | |
| 773 | 0 |
_tAmerican journal of human genetics _gvol. 73 _gno. 2 _gp. 355-69 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1086/377107 _zAvailable from publisher's website |
| 999 |
_c12622795 _d12622795 |
||