| 000 | 01588 a2200457 4500 | ||
|---|---|---|---|
| 005 | 20250513145051.0 | ||
| 264 | 0 | _c19980806 | |
| 008 | 199808s 0 0 eng d | ||
| 022 | _a0027-8424 | ||
| 024 | 7 |
_a10.1073/pnas.95.14.8181 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aFitzky, B U | |
| 245 | 0 | 0 |
_aMutations in the Delta7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome. _h[electronic resource] |
| 260 |
_bProceedings of the National Academy of Sciences of the United States of America _cJul 1998 |
||
| 300 |
_a8181-6 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAmino Acid Sequence |
| 650 | 0 | 4 | _aAnimals |
| 650 | 0 | 4 | _aChromosome Mapping |
| 650 | 0 | 4 | _aChromosomes, Human, Pair 11 |
| 650 | 0 | 4 | _aCloning, Molecular |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMice |
| 650 | 0 | 4 | _aMolecular Sequence Data |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 |
_aOxidoreductases _xgenetics |
| 650 | 0 | 4 | _aOxidoreductases Acting on CH-CH Group Donors |
| 650 | 0 | 4 | _aSequence Alignment |
| 650 | 0 | 4 |
_aSmith-Lemli-Opitz Syndrome _xgenetics |
| 700 | 1 | _aWitsch-Baumgartner, M | |
| 700 | 1 | _aErdel, M | |
| 700 | 1 | _aLee, J N | |
| 700 | 1 | _aPaik, Y K | |
| 700 | 1 | _aGlossmann, H | |
| 700 | 1 | _aUtermann, G | |
| 700 | 1 | _aMoebius, F F | |
| 773 | 0 |
_tProceedings of the National Academy of Sciences of the United States of America _gvol. 95 _gno. 14 _gp. 8181-6 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1073/pnas.95.14.8181 _zAvailable from publisher's website |
| 999 |
_c9619284 _d9619284 |
||