| 000 | 01520 a2200457 4500 | ||
|---|---|---|---|
| 005 | 20250513094743.0 | ||
| 264 | 0 | _c19960925 | |
| 008 | 199609s 0 0 eng d | ||
| 022 | _a0002-9297 | ||
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aParry, D M | |
| 245 | 0 | 0 |
_aGerm-line mutations in the neurofibromatosis 2 gene: correlations with disease severity and retinal abnormalities. _h[electronic resource] |
| 260 |
_bAmerican journal of human genetics _cSep 1996 |
||
| 300 |
_a529-39 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S. | ||
| 650 | 0 | 4 | _aAdolescent |
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 | _aAge of Onset |
| 650 | 0 | 4 |
_aCataract _xgenetics |
| 650 | 0 | 4 |
_aGenes, Neurofibromatosis 2 _xgenetics |
| 650 | 0 | 4 | _aGenotype |
| 650 | 0 | 4 |
_aGerm-Line Mutation _xgenetics |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMeningioma _xgenetics |
| 650 | 0 | 4 |
_aMutation _xgenetics |
| 650 | 0 | 4 |
_aNeurofibromatosis 2 _xdiagnosis |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 | _aPolymorphism, Single-Stranded Conformational |
| 650 | 0 | 4 |
_aRetinal Diseases _xgenetics |
| 650 | 0 | 4 |
_aSkin Neoplasms _xgenetics |
| 650 | 0 | 4 |
_aSpinal Neoplasms _xgenetics |
| 700 | 1 | _aMacCollin, M M | |
| 700 | 1 | _aKaiser-Kupfer, M I | |
| 700 | 1 | _aPulaski, K | |
| 700 | 1 | _aNicholson, H S | |
| 700 | 1 | _aBolesta, M | |
| 700 | 1 | _aEldridge, R | |
| 700 | 1 | _aGusella, J F | |
| 773 | 0 |
_tAmerican journal of human genetics _gvol. 59 _gno. 3 _gp. 529-39 |
|
| 999 |
_c8748856 _d8748856 |
||