000 | 01271 a2200373 4500 | ||
---|---|---|---|
005 | 20250515093539.0 | ||
264 | 0 | _c20080205 | |
008 | 200802s 0 0 eng d | ||
022 | _a1720-8386 | ||
024 | 7 |
_a10.1007/BF03350823 _2doi |
|
040 |
_aNLM _beng _cNLM |
||
100 | 1 | _aDi Pasquale, L | |
245 | 0 | 0 |
_aNovel nonsense mutation (W22X) in CYP21A2 gene causing salt-wasting congenital adrenal hyperplasia in a compound heterozygous girl. _h[electronic resource] |
260 |
_bJournal of endocrinological investigation _cOct 2007 |
||
300 |
_a806-7 p. _bdigital |
||
500 | _aPublication Type: Case Reports; Letter | ||
650 | 0 | 4 |
_aAdrenal Hyperplasia, Congenital _xdiagnosis |
650 | 0 | 4 |
_aCodon, Nonsense _xgenetics |
650 | 0 | 4 | _aFemale |
650 | 0 | 4 | _aHeterozygote |
650 | 0 | 4 | _aHumans |
650 | 0 | 4 | _aInfant, Newborn |
650 | 0 | 4 | _aPhenotype |
650 | 0 | 4 |
_aSteroid 21-Hydroxylase _xgenetics |
700 | 1 | _aIndovina, S | |
700 | 1 | _aWasniewska, M | |
700 | 1 | _aMirabelli, S | |
700 | 1 | _aPorcelli, P | |
700 | 1 | _aRulli, I | |
700 | 1 | _aSalzano, G | |
700 | 1 | _aDe Luca, F | |
773 | 0 |
_tJournal of endocrinological investigation _gvol. 30 _gno. 9 _gp. 806-7 |
|
856 | 4 | 0 |
_uhttps://doi.org/10.1007/BF03350823 _zAvailable from publisher's website |
999 |
_c17511260 _d17511260 |