| 000 | 01378 a2200385 4500 | ||
|---|---|---|---|
| 005 | 20250513142542.0 | ||
| 264 | 0 | _c19980601 | |
| 008 | 199806s 0 0 eng d | ||
| 022 | _a0022-202X | ||
| 024 | 7 |
_a10.1046/j.1523-1747.1998.00171.x _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aSijbers, A M | |
| 245 | 0 | 0 |
_aHomozygous R788W point mutation in the XPF gene of a patient with xeroderma pigmentosum and late-onset neurologic disease. _h[electronic resource] |
| 260 |
_bThe Journal of investigative dermatology _cMay 1998 |
||
| 300 |
_a832-6 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aDNA Mutational Analysis |
| 650 | 0 | 4 |
_aDNA Repair _xgenetics |
| 650 | 0 | 4 | _aHomozygote |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMiddle Aged |
| 650 | 0 | 4 |
_aMutation _xgenetics |
| 650 | 0 | 4 |
_aNervous System Diseases _xgenetics |
| 650 | 0 | 4 |
_aPoint Mutation _xgenetics |
| 650 | 0 | 4 | _aTime Factors |
| 650 | 0 | 4 |
_aXeroderma Pigmentosum _xgenetics |
| 700 | 1 | _avan Voorst Vader, P C | |
| 700 | 1 | _aSnoek, J W | |
| 700 | 1 | _aRaams, A | |
| 700 | 1 | _aJaspers, N G | |
| 700 | 1 | _aKleijer, W J | |
| 773 | 0 |
_tThe Journal of investigative dermatology _gvol. 110 _gno. 5 _gp. 832-6 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1046/j.1523-1747.1998.00171.x _zAvailable from publisher's website |
| 999 |
_c9546447 _d9546447 |
||