| 000 | 01828 a2200541 4500 | ||
|---|---|---|---|
| 005 | 20250515092304.0 | ||
| 264 | 0 | _c20080403 | |
| 008 | 200804s 0 0 eng d | ||
| 022 | _a1468-6244 | ||
| 024 | 7 |
_a10.1136/jmg.2007.052084 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aJonckheere, A I | |
| 245 | 0 | 0 |
_aA novel mitochondrial ATP8 gene mutation in a patient with apical hypertrophic cardiomyopathy and neuropathy. _h[electronic resource] |
| 260 |
_bJournal of medical genetics _cMar 2008 |
||
| 300 |
_a129-33 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAdolescent |
| 650 | 0 | 4 | _aAmino Acid Sequence |
| 650 | 0 | 4 | _aBase Sequence |
| 650 | 0 | 4 |
_aCardiomyopathy, Hypertrophic _xenzymology |
| 650 | 0 | 4 | _aCodon, Nonsense |
| 650 | 0 | 4 |
_aDNA Primers _xgenetics |
| 650 | 0 | 4 | _aGenes, Mitochondrial |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aHybrid Cells |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMitochondrial Diseases _xenzymology |
| 650 | 0 | 4 |
_aMitochondrial Proton-Translocating ATPases _xchemistry |
| 650 | 0 | 4 | _aMolecular Sequence Data |
| 650 | 0 | 4 |
_aNervous System Diseases _xenzymology |
| 650 | 0 | 4 | _aSequence Homology, Amino Acid |
| 700 | 1 | _aHogeveen, M | |
| 700 | 1 | _aNijtmans, L G J | |
| 700 | 1 | _avan den Brand, M A M | |
| 700 | 1 | _aJanssen, A J M | |
| 700 | 1 | _aDiepstra, J H S | |
| 700 | 1 | _avan den Brandt, F C A | |
| 700 | 1 | _avan den Heuvel, L P | |
| 700 | 1 | _aHol, F A | |
| 700 | 1 | _aHofste, T G J | |
| 700 | 1 | _aKapusta, L | |
| 700 | 1 | _aDillmann, U | |
| 700 | 1 | _aShamdeen, M G | |
| 700 | 1 | _aSmeitink, J A M | |
| 700 | 1 | _aRodenburg, R J T | |
| 773 | 0 |
_tJournal of medical genetics _gvol. 45 _gno. 3 _gp. 129-33 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1136/jmg.2007.052084 _zAvailable from publisher's website |
| 999 |
_c17474263 _d17474263 |
||