| 000 | 01638 a2200469 4500 | ||
|---|---|---|---|
| 005 | 20250514221928.0 | ||
| 264 | 0 | _c20060928 | |
| 008 | 200609s 0 0 eng d | ||
| 022 | _a0946-2716 | ||
| 024 | 7 |
_a10.1007/s00109-005-0651-7 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aHackel, Christine | |
| 245 | 0 | 0 |
_aNew mutations, hotspots, and founder effects in Brazilian patients with steroid 5alpha-reductase deficiency type 2. _h[electronic resource] |
| 260 |
_bJournal of molecular medicine (Berlin, Germany) _cJul 2005 |
||
| 300 |
_a569-76 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 |
_a3-Oxo-5-alpha-Steroid 4-Dehydrogenase _xdeficiency |
| 650 | 0 | 4 | _aAdolescent |
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 | _aBrazil |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 | _aConsanguinity |
| 650 | 0 | 4 |
_aDisorders of Sex Development _xenzymology |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aFounder Effect |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 | _aInfant, Newborn |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMutation _xgenetics |
| 650 | 0 | 4 | _aSequence Analysis, DNA |
| 700 | 1 | _aOliveira, Luiz Eduardo Chimello | |
| 700 | 1 | _aFerraz, Lucio Fabio Caldas | |
| 700 | 1 | _aTonini, Maria Manuela Oliveira | |
| 700 | 1 | _aSilva, Daniela Nunes | |
| 700 | 1 | _aToralles, Maria Betania | |
| 700 | 1 | _aStuchi-Perez, Eliana Gabas | |
| 700 | 1 | _aGuerra-Junior, Gil | |
| 773 | 0 |
_tJournal of molecular medicine (Berlin, Germany) _gvol. 83 _gno. 7 _gp. 569-76 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1007/s00109-005-0651-7 _zAvailable from publisher's website |
| 999 |
_c15442912 _d15442912 |
||