| 000 | 01856 a2200565 4500 | ||
|---|---|---|---|
| 005 | 20250514225431.0 | ||
| 264 | 0 | _c20050829 | |
| 008 | 200508s 0 0 eng d | ||
| 022 | _a0002-9297 | ||
| 024 | 7 |
_a10.1086/431244 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aBrooks, Alice S | |
| 245 | 0 | 0 |
_aHomozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems. _h[electronic resource] |
| 260 |
_bAmerican journal of human genetics _cJul 2005 |
||
| 300 |
_a120-6 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAbnormalities, Multiple |
| 650 | 0 | 4 | _aBase Sequence |
| 650 | 0 | 4 | _aChromosomes, Human, Pair 10 |
| 650 | 0 | 4 | _aCodon, Nonsense |
| 650 | 0 | 4 | _aConsanguinity |
| 650 | 0 | 4 |
_aEnteric Nervous System _xabnormalities |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aHirschsprung Disease _xgenetics |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aIntellectual Disability _xgenetics |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aNerve Tissue Proteins |
| 650 | 0 | 4 |
_aNervous System Malformations _xgenetics |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aSyndrome |
| 700 | 1 | _aBertoli-Avella, Aida M | |
| 700 | 1 | _aBurzynski, Grzegorz M | |
| 700 | 1 | _aBreedveld, Guido J | |
| 700 | 1 | _aOsinga, Jan | |
| 700 | 1 | _aBoven, Ludolf G | |
| 700 | 1 | _aHurst, Jane A | |
| 700 | 1 | _aMancini, Grazia M S | |
| 700 | 1 | _aLequin, Maarten H | |
| 700 | 1 | _ade Coo, Rene F | |
| 700 | 1 | _aMatera, Ivana | |
| 700 | 1 | _ade Graaff, Esther | |
| 700 | 1 | _aMeijers, Carel | |
| 700 | 1 | _aWillems, Patrick J | |
| 700 | 1 | _aTibboel, Dick | |
| 700 | 1 | _aOostra, Ben A | |
| 700 | 1 | _aHofstra, Robert M W | |
| 773 | 0 |
_tAmerican journal of human genetics _gvol. 77 _gno. 1 _gp. 120-6 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1086/431244 _zAvailable from publisher's website |
| 999 |
_c15546978 _d15546978 |
||