| 000 | 01123 a2200337 4500 | ||
|---|---|---|---|
| 005 | 20250514052320.0 | ||
| 264 | 0 | _c20030611 | |
| 008 | 200306s 0 0 eng d | ||
| 022 | _a0001-5652 | ||
| 024 | 7 |
_a10.1159/000066694 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aShi, Yi-Ru | |
| 245 | 0 | 0 |
_aA novel nonsense mutation of the sedlin gene in a family with spondyloepiphyseal dysplasia tarda. _h[electronic resource] |
| 260 |
_bHuman heredity _c2002 |
||
| 300 |
_a54-6 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAdolescent |
| 650 | 0 | 4 |
_aCarrier Proteins _xgenetics |
| 650 | 0 | 4 | _aCodon, Nonsense |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMembrane Transport Proteins |
| 650 | 0 | 4 |
_aOsteochondrodysplasias _xgenetics |
| 650 | 0 | 4 | _aTranscription Factors |
| 700 | 1 | _aLee, Cheng-Chun | |
| 700 | 1 | _aHsu, Yu-An | |
| 700 | 1 | _aWang, Chung-Hsing | |
| 700 | 1 | _aTsai, Fuu-Jen | |
| 773 | 0 |
_tHuman heredity _gvol. 54 _gno. 1 _gp. 54-6 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1159/000066694 _zAvailable from publisher's website |
| 999 |
_c12253360 _d12253360 |
||