| 000 | 01642 a2200469 4500 | ||
|---|---|---|---|
| 005 | 20250515023937.0 | ||
| 264 | 0 | _c20060626 | |
| 008 | 200606s 0 0 eng d | ||
| 022 | _a1098-1004 | ||
| 024 | 7 |
_a10.1002/humu.20332 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aIlja Boor, P K | |
| 245 | 0 | 0 |
_aMegalencephalic leukoencephalopathy with subcortical cysts: an update and extended mutation analysis of MLC1. _h[electronic resource] |
| 260 |
_bHuman mutation _cJun 2006 |
||
| 300 |
_a505-12 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aBase Sequence |
| 650 | 0 | 4 |
_aBrain Diseases _xdiagnosis |
| 650 | 0 | 4 |
_aBrain Neoplasms _xdiagnosis |
| 650 | 0 | 4 |
_aCentral Nervous System Cysts _xdiagnosis |
| 650 | 0 | 4 | _aDNA Mutational Analysis |
| 650 | 0 | 4 | _aFounder Effect |
| 650 | 0 | 4 | _aGenetic Linkage |
| 650 | 0 | 4 |
_aHead _xabnormalities |
| 650 | 0 | 4 |
_aHereditary Central Nervous System Demyelinating Diseases _xdiagnosis |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aMembrane Proteins _xchemistry |
| 650 | 0 | 4 | _aMolecular Sequence Data |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 | _aPolymorphism, Genetic |
| 650 | 0 | 4 | _aRNA Splice Sites |
| 650 | 0 | 4 | _aSequence Analysis, Protein |
| 650 | 0 | 4 |
_aTelencephalon _xabnormalities |
| 700 | 1 | _ade Groot, Koen | |
| 700 | 1 | _aMejaski-Bosnjak, Vlatka | |
| 700 | 1 | _aBrenner, Christiana | |
| 700 | 1 | _avan der Knaap, Marjo S | |
| 700 | 1 | _aScheper, Gert C | |
| 700 | 1 | _aPronk, Jan C | |
| 773 | 0 |
_tHuman mutation _gvol. 27 _gno. 6 _gp. 505-12 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1002/humu.20332 _zAvailable from publisher's website |
| 999 |
_c16254315 _d16254315 |
||