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