| 000 | 01681 a2200493 4500 | ||
|---|---|---|---|
| 005 | 20250514233723.0 | ||
| 264 | 0 | _c20051011 | |
| 008 | 200510s 0 0 eng d | ||
| 022 | _a0301-0163 | ||
| 024 | 7 |
_a10.1159/000087074 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aKuribayashi, Isao | |
| 245 | 0 | 0 |
_aSteroid 11-beta-hydroxylase deficiency caused by compound heterozygosity for a novel mutation, p.G314R, in one CYP11B1 allele, and a chimeric CYP11B2/CYP11B1 in the other allele. _h[electronic resource] |
| 260 |
_bHormone research _c2005 |
||
| 300 |
_a284-93 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 |
_aAdrenal Hyperplasia, Congenital _xenzymology |
| 650 | 0 | 4 | _aAlleles |
| 650 | 0 | 4 | _aAmino Acid Sequence |
| 650 | 0 | 4 | _aAnimals |
| 650 | 0 | 4 | _aBase Sequence |
| 650 | 0 | 4 | _aCOS Cells |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 | _aChlorocebus aethiops |
| 650 | 0 | 4 |
_aCytochrome P-450 CYP11B2 _xgenetics |
| 650 | 0 | 4 | _aHeterozygote |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMolecular Sequence Data |
| 650 | 0 | 4 | _aMutation, Missense |
| 650 | 0 | 4 |
_aRecombinant Fusion Proteins _xgenetics |
| 650 | 0 | 4 | _aSequence Alignment |
| 650 | 0 | 4 |
_aSteroid 11-beta-Hydroxylase _xbiosynthesis |
| 650 | 0 | 4 |
_aZona Fasciculata _xenzymology |
| 700 | 1 | _aNomoto, Satoshi | |
| 700 | 1 | _aMassa, Guy | |
| 700 | 1 | _aOostdijk, Wilma | |
| 700 | 1 | _aWit, Jan M | |
| 700 | 1 | _aWolffenbuttel, Bruce H R | |
| 700 | 1 | _aShizuta, Yutaka | |
| 700 | 1 | _aHonke, Koichi | |
| 773 | 0 |
_tHormone research _gvol. 63 _gno. 6 _gp. 284-93 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1159/000087074 _zAvailable from publisher's website |
| 999 |
_c15680050 _d15680050 |
||