| 000 | 01831 a2200517 4500 | ||
|---|---|---|---|
| 005 | 20250514164307.0 | ||
| 264 | 0 | _c20040223 | |
| 008 | 200402s 0 0 eng d | ||
| 022 | _a1468-6244 | ||
| 024 | 7 |
_a10.1136/jmg.40.12.e128 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aLeeflang, E P | |
| 245 | 0 | 0 |
_aPatient with bilateral periventricular nodular heterotopia and polymicrogyria with apparently balanced reciprocal translocation t(1;6)(p12;p12.2) that interrupts the mannosidase alpha, class 1A, and glutathione S-transferase A2 genes. _h[electronic resource] |
| 260 |
_bJournal of medical genetics _cDec 2003 |
||
| 300 |
_ae128 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Letter; Research Support, U.S. Gov't, P.H.S. | ||
| 650 | 0 | 4 |
_aBrain _xabnormalities |
| 650 | 0 | 4 |
_aBrain Diseases _xdiagnosis |
| 650 | 0 | 4 | _aCerebral Cortex |
| 650 | 0 | 4 |
_aChoristoma _xdiagnosis |
| 650 | 0 | 4 | _aChromosome Breakage |
| 650 | 0 | 4 | _aChromosome Mapping |
| 650 | 0 | 4 | _aChromosomes, Human, Pair 1 |
| 650 | 0 | 4 | _aChromosomes, Human, Pair 6 |
| 650 | 0 | 4 | _aDNA Mutational Analysis |
| 650 | 0 | 4 | _aGenetic Predisposition to Disease |
| 650 | 0 | 4 |
_aGlutathione Transferase _xgenetics |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aLateral Ventricles |
| 650 | 0 | 4 | _aMagnetic Resonance Imaging |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 | _aTranslocation, Genetic |
| 650 | 0 | 4 |
_aalpha-Mannosidase _xgenetics |
| 700 | 1 | _aMarsh, S E | |
| 700 | 1 | _aParrini, E | |
| 700 | 1 | _aMoro, F | |
| 700 | 1 | _aPilz, D | |
| 700 | 1 | _aDobyns, W B | |
| 700 | 1 | _aGuerrini, R | |
| 700 | 1 | _aWheless, J W | |
| 700 | 1 | _aGleeson, J G | |
| 773 | 0 |
_tJournal of medical genetics _gvol. 40 _gno. 12 _gp. e128 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1136/jmg.40.12.e128 _zAvailable from publisher's website |
| 999 |
_c14416261 _d14416261 |
||