| 000 | 01743 a2200493 4500 | ||
|---|---|---|---|
| 005 | 20250514182514.0 | ||
| 264 | 0 | _c20040510 | |
| 008 | 200405s 0 0 eng d | ||
| 022 | _a0002-9297 | ||
| 024 | 7 |
_a10.1086/383205 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aLenski, Claus | |
| 245 | 0 | 0 |
_aNovel truncating mutations in the polyglutamine tract binding protein 1 gene (PQBP1) cause Renpenning syndrome and X-linked mental retardation in another family with microcephaly. _h[electronic resource] |
| 260 |
_bAmerican journal of human genetics _cApr 2004 |
||
| 300 |
_a777-80 p. _bdigital |
||
| 500 | _aPublication Type: Letter; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S. | ||
| 650 | 0 | 4 |
_aAbnormalities, Multiple _xgenetics |
| 650 | 0 | 4 | _aAmino Acid Sequence |
| 650 | 0 | 4 | _aBase Sequence |
| 650 | 0 | 4 | _aCarrier Proteins |
| 650 | 0 | 4 | _aDNA-Binding Proteins |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aGenetic Diseases, X-Linked _xgenetics |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aIntellectual Disability _xcomplications |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMicrocephaly _xcomplications |
| 650 | 0 | 4 | _aMolecular Sequence Data |
| 650 | 0 | 4 |
_aMutation _xgenetics |
| 650 | 0 | 4 |
_aNuclear Proteins _xchemistry |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aSyndrome |
| 700 | 1 | _aAbidi, Fatima | |
| 700 | 1 | _aMeindl, Alfons | |
| 700 | 1 | _aGibson, Alice | |
| 700 | 1 | _aPlatzer, Matthias | |
| 700 | 1 | _aFrank Kooy, R | |
| 700 | 1 | _aLubs, Herbert A | |
| 700 | 1 | _aStevenson, Roger E | |
| 700 | 1 | _aRamser, Juliane | |
| 700 | 1 | _aSchwartz, Charles E | |
| 773 | 0 |
_tAmerican journal of human genetics _gvol. 74 _gno. 4 _gp. 777-80 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1086/383205 _zAvailable from publisher's website |
| 999 |
_c14742967 _d14742967 |
||