| 000 | 01253 a2200373 4500 | ||
|---|---|---|---|
| 005 | 20250514034711.0 | ||
| 264 | 0 | _c20020708 | |
| 008 | 200207s 0 0 eng d | ||
| 022 | _a1468-6244 | ||
| 024 | 7 |
_a10.1136/jmg.39.6.e31 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aWaye, J S | |
| 245 | 0 | 0 |
_aSmith-Lemli-Opitz syndrome: carrier frequency and spectrum of DHCR7 mutations in Canada. _h[electronic resource] |
| 260 |
_bJournal of medical genetics _cJun 2002 |
||
| 300 |
_aE31 p. _bdigital |
||
| 500 | _aPublication Type: Letter; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aCanada |
| 650 | 0 | 4 | _aGene Frequency |
| 650 | 0 | 4 | _aGenetic Carrier Screening |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 |
_aOxidoreductases _xgenetics |
| 650 | 0 | 4 | _aOxidoreductases Acting on CH-CH Group Donors |
| 650 | 0 | 4 | _aPolymorphism, Single Nucleotide |
| 650 | 0 | 4 |
_aSmith-Lemli-Opitz Syndrome _xgenetics |
| 700 | 1 | _aNakamura, L M | |
| 700 | 1 | _aEng, B | |
| 700 | 1 | _aHunnisett, L | |
| 700 | 1 | _aChitayat, D | |
| 700 | 1 | _aCosta, T | |
| 700 | 1 | _aNowaczyk, M J M | |
| 773 | 0 |
_tJournal of medical genetics _gvol. 39 _gno. 6 _gp. E31 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1136/jmg.39.6.e31 _zAvailable from publisher's website |
| 999 |
_c11965398 _d11965398 |
||