| 000 | 01709 a2200517 4500 | ||
|---|---|---|---|
| 005 | 20250516005816.0 | ||
| 264 | 0 | _c20110204 | |
| 008 | 201102s 0 0 eng d | ||
| 022 | _a1552-4833 | ||
| 024 | 7 |
_a10.1002/ajmg.a.33692 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aEndris, Volker | |
| 245 | 0 | 0 |
_aHomozygous loss of CHRNA7 on chromosome 15q13.3 causes severe encephalopathy with seizures and hypotonia. _h[electronic resource] |
| 260 |
_bAmerican journal of medical genetics. Part A _cNov 2010 |
||
| 300 |
_a2908-11 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAdolescent |
| 650 | 0 | 4 | _aBase Pairing |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aChromosome Deletion |
| 650 | 0 | 4 |
_aChromosomes, Human, Pair 15 _xgenetics |
| 650 | 0 | 4 | _aFamily |
| 650 | 0 | 4 | _aFatal Outcome |
| 650 | 0 | 4 | _aHeterozygote |
| 650 | 0 | 4 | _aHomozygote |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMuscle Hypotonia _xcomplications |
| 650 | 0 | 4 |
_aReceptors, Nicotinic _xgenetics |
| 650 | 0 | 4 |
_aSeizures _xcomplications |
| 650 | 0 | 4 | _aalpha7 Nicotinic Acetylcholine Receptor |
| 700 | 1 | _aHackmann, Karl | |
| 700 | 1 | _aNeuhann, Teresa M | |
| 700 | 1 | _aGrasshoff, Ute | |
| 700 | 1 | _aBonin, Michael | |
| 700 | 1 | _aHaug, Ulrich | |
| 700 | 1 | _aHahn, Gabriele | |
| 700 | 1 | _aSchallner, Jens C | |
| 700 | 1 | _aSchröck, Evelin | |
| 700 | 1 | _aTinschert, Sigrid | |
| 700 | 1 | _aRappold, Gudrun | |
| 700 | 1 | _aMoog, Ute | |
| 773 | 0 |
_tAmerican journal of medical genetics. Part A _gvol. 152A _gno. 11 _gp. 2908-11 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1002/ajmg.a.33692 _zAvailable from publisher's website |
| 999 |
_c20279861 _d20279861 |
||