| 000 | 01619 a2200457 4500 | ||
|---|---|---|---|
| 005 | 20250514053158.0 | ||
| 264 | 0 | _c20030221 | |
| 008 | 200302s 0 0 eng d | ||
| 022 | _a0002-9297 | ||
| 024 | 7 |
_a10.1086/345489 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aAntonicka, Hana | |
| 245 | 0 | 0 |
_aMutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy. _h[electronic resource] |
| 260 |
_bAmerican journal of human genetics _cJan 2003 |
||
| 300 |
_a101-14 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAge of Onset |
| 650 | 0 | 4 | _aAmino Acid Sequence |
| 650 | 0 | 4 | _aAnimals |
| 650 | 0 | 4 | _aBase Sequence |
| 650 | 0 | 4 |
_aCardiomyopathy, Hypertrophic _xenzymology |
| 650 | 0 | 4 | _aDNA Mutational Analysis |
| 650 | 0 | 4 | _aFibroblasts |
| 650 | 0 | 4 |
_aHeme _xanalogs & derivatives |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aMembrane Proteins _xbiosynthesis |
| 650 | 0 | 4 |
_aMitochondria, Heart _xenzymology |
| 650 | 0 | 4 | _aMolecular Sequence Data |
| 650 | 0 | 4 |
_aMutation _xgenetics |
| 650 | 0 | 4 |
_aMyocardium _xenzymology |
| 650 | 0 | 4 | _aSaccharomyces cerevisiae Proteins |
| 700 | 1 | _aMattman, Andre | |
| 700 | 1 | _aCarlson, Christopher G | |
| 700 | 1 | _aGlerum, D Moira | |
| 700 | 1 | _aHoffbuhr, Kristen C | |
| 700 | 1 | _aLeary, Scot C | |
| 700 | 1 | _aKennaway, Nancy G | |
| 700 | 1 | _aShoubridge, Eric A | |
| 773 | 0 |
_tAmerican journal of human genetics _gvol. 72 _gno. 1 _gp. 101-14 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1086/345489 _zAvailable from publisher's website |
| 999 |
_c12279040 _d12279040 |
||