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