| 000 | 01559 a2200469 4500 | ||
|---|---|---|---|
| 005 | 20250513134127.0 | ||
| 264 | 0 | _c19990630 | |
| 008 | 199906s 0 0 eng d | ||
| 022 | _a1059-7794 | ||
| 024 | 7 |
_a10.1002/humu.1380110195 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aKatsumata, N | |
| 245 | 0 | 0 |
_aNovel frameshift mutation 840delA and a novel polymorphism D203A in the steroidogenic acute regulatory protein gene in a Japanese patient with congenital lipoid adrenal hyperplasia. _h[electronic resource] |
| 260 |
_bHuman mutation _c1998 |
||
| 300 |
_aS304-7 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 |
_aAdrenal Hyperplasia, Congenital _xgenetics |
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 | _aAmino Acid Sequence |
| 650 | 0 | 4 | _aAmino Acid Substitution |
| 650 | 0 | 4 | _aBase Sequence |
| 650 | 0 | 4 |
_aDNA _xchemistry |
| 650 | 0 | 4 | _aDNA Mutational Analysis |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aFrameshift Mutation |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aJapan |
| 650 | 0 | 4 |
_aPhosphoproteins _xgenetics |
| 650 | 0 | 4 | _aPoint Mutation |
| 650 | 0 | 4 | _aPolymorphism, Genetic |
| 650 | 0 | 4 | _aSequence Deletion |
| 650 | 0 | 4 | _aSteroidogenic Acute Regulatory Protein |
| 700 | 1 | _aTanae, A | |
| 700 | 1 | _aShinagawa, T | |
| 700 | 1 | _aNagashima-Miyokawa, A | |
| 700 | 1 | _aShimizu, M | |
| 700 | 1 | _aYasunaga, T | |
| 700 | 1 | _aTanaka, T | |
| 700 | 1 | _aHibi, I | |
| 773 | 0 |
_tHuman mutation _gvol. Suppl 1 _gp. S304-7 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1002/humu.1380110195 _zAvailable from publisher's website |
| 999 |
_c9421223 _d9421223 |
||