| 000 | 02831 a2200829 4500 | ||
|---|---|---|---|
| 005 | 20250517012817.0 | ||
| 264 | 0 | _c20150409 | |
| 008 | 201504s 0 0 eng d | ||
| 022 | _a1537-6605 | ||
| 024 | 7 |
_a10.1016/j.ajhg.2014.12.013 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aWortmann, Saskia B | |
| 245 | 0 | 0 |
_aCLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder. _h[electronic resource] |
| 260 |
_bAmerican journal of human genetics _cFeb 2015 |
||
| 300 |
_a245-57 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 |
_aAbnormalities, Multiple _xgenetics |
| 650 | 0 | 4 |
_aAdenosine Triphosphatases _xmetabolism |
| 650 | 0 | 4 | _aAnimals |
| 650 | 0 | 4 |
_aAtrophy _xgenetics |
| 650 | 0 | 4 | _aBase Sequence |
| 650 | 0 | 4 |
_aBrain _xpathology |
| 650 | 0 | 4 |
_aCataract _xgenetics |
| 650 | 0 | 4 |
_aEndopeptidase Clp _xgenetics |
| 650 | 0 | 4 |
_aExome _xgenetics |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aIntellectual Disability _xgenetics |
| 650 | 0 | 4 |
_aMetabolism, Inborn Errors _xgenetics |
| 650 | 0 | 4 | _aMolecular Sequence Data |
| 650 | 0 | 4 |
_aMovement Disorders _xgenetics |
| 650 | 0 | 4 |
_aNeutropenia _xgenetics |
| 650 | 0 | 4 |
_aPolymorphism, Single Nucleotide _xgenetics |
| 650 | 0 | 4 |
_aSarcoplasmic Reticulum Calcium-Transporting ATPases _xmetabolism |
| 650 | 0 | 4 | _aSequence Analysis, DNA |
| 650 | 0 | 4 | _aZebrafish |
| 700 | 1 | _aZiętkiewicz, Szymon | |
| 700 | 1 | _aKousi, Maria | |
| 700 | 1 | _aSzklarczyk, Radek | |
| 700 | 1 | _aHaack, Tobias B | |
| 700 | 1 | _aGersting, Søren W | |
| 700 | 1 | _aMuntau, Ania C | |
| 700 | 1 | _aRakovic, Aleksandar | |
| 700 | 1 | _aRenkema, G Herma | |
| 700 | 1 | _aRodenburg, Richard J | |
| 700 | 1 | _aStrom, Tim M | |
| 700 | 1 | _aMeitinger, Thomas | |
| 700 | 1 | _aRubio-Gozalbo, M Estela | |
| 700 | 1 | _aChrusciel, Elzbieta | |
| 700 | 1 | _aDistelmaier, Felix | |
| 700 | 1 | _aGolzio, Christelle | |
| 700 | 1 | _aJansen, Joop H | |
| 700 | 1 | _avan Karnebeek, Clara | |
| 700 | 1 | _aLillquist, Yolanda | |
| 700 | 1 | _aLücke, Thomas | |
| 700 | 1 | _aÕunap, Katrin | |
| 700 | 1 | _aZordania, Riina | |
| 700 | 1 | _aYaplito-Lee, Joy | |
| 700 | 1 | _avan Bokhoven, Hans | |
| 700 | 1 | _aSpelbrink, Johannes N | |
| 700 | 1 | _aVaz, Frédéric M | |
| 700 | 1 | _aPras-Raves, Mia | |
| 700 | 1 | _aPloski, Rafal | |
| 700 | 1 | _aPronicka, Ewa | |
| 700 | 1 | _aKlein, Christine | |
| 700 | 1 | _aWillemsen, Michel A A P | |
| 700 | 1 | _ade Brouwer, Arjan P M | |
| 700 | 1 | _aProkisch, Holger | |
| 700 | 1 | _aKatsanis, Nicholas | |
| 700 | 1 | _aWevers, Ron A | |
| 773 | 0 |
_tAmerican journal of human genetics _gvol. 96 _gno. 2 _gp. 245-57 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1016/j.ajhg.2014.12.013 _zAvailable from publisher's website |
| 999 |
_c24542382 _d24542382 |
||