| 000 | 01548 a2200493 4500 | ||
|---|---|---|---|
| 005 | 20250513194938.0 | ||
| 264 | 0 | _c20000111 | |
| 008 | 200001s 0 0 eng d | ||
| 022 | _a1018-8665 | ||
| 024 | 7 |
_a10.1159/000018218 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aMatsunaga, J | |
| 245 | 0 | 0 |
_aA splicing mutation of the tyrosinase gene causes yellow oculocutaneous albinism in a Japanese patient with a pigmented phenotype. _h[electronic resource] |
| 260 |
_bDermatology (Basel, Switzerland) _c1999 |
||
| 300 |
_a124-9 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 |
_aAlbinism, Oculocutaneous _xgenetics |
| 650 | 0 | 4 |
_aAlternative Splicing _xgenetics |
| 650 | 0 | 4 | _aDNA Mutational Analysis |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGenetic Testing |
| 650 | 0 | 4 | _aGenotype |
| 650 | 0 | 4 | _aHeterozygote |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 | _aJapan |
| 650 | 0 | 4 |
_aMelanins _xdeficiency |
| 650 | 0 | 4 |
_aMonophenol Monooxygenase _xgenetics |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 |
_aPigmentation _xgenetics |
| 650 | 0 | 4 | _aSequence Deletion |
| 700 | 1 | _aDakeishi-Hara, M | |
| 700 | 1 | _aTanita, M | |
| 700 | 1 | _aNindl, M | |
| 700 | 1 | _aNagata, Y | |
| 700 | 1 | _aNakamura, E | |
| 700 | 1 | _aMiyamura, Y | |
| 700 | 1 | _aKikuchi, K | |
| 700 | 1 | _aFurue, M | |
| 700 | 1 | _aTomita, Y | |
| 773 | 0 |
_tDermatology (Basel, Switzerland) _gvol. 199 _gno. 2 _gp. 124-9 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1159/000018218 _zAvailable from publisher's website |
| 999 |
_c10515909 _d10515909 |
||