| 000 | 01631 a2200505 4500 | ||
|---|---|---|---|
| 005 | 20250517022457.0 | ||
| 264 | 0 | _c20160824 | |
| 008 | 201608s 0 0 eng d | ||
| 022 | _a1476-5438 | ||
| 024 | 7 |
_a10.1038/ejhg.2015.50 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aFerri, Lorenzo | |
| 245 | 0 | 0 |
_aIntra-individual plasticity of the TAZ gene leading to different heritable mutations in siblings with Barth syndrome. _h[electronic resource] |
| 260 |
_bEuropean journal of human genetics : EJHG _cDec 2015 |
||
| 300 |
_a1708-12 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAcyltransferases |
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 |
_aBarth Syndrome _xdiagnosis |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aChromosome Breakpoints |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGene Deletion |
| 650 | 0 | 4 | _aHeterozygote |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 | _aSiblings |
| 650 | 0 | 4 |
_aTranscription Factors _xgenetics |
| 700 | 1 | _aDonati, Maria A | |
| 700 | 1 | _aFunghini, Silvia | |
| 700 | 1 | _aCavicchi, Catia | |
| 700 | 1 | _aPensato, Viviana | |
| 700 | 1 | _aGellera, Cinzia | |
| 700 | 1 | _aNatacci, Federica | |
| 700 | 1 | _aSpaccini, Luigina | |
| 700 | 1 | _aGasperini, Serena | |
| 700 | 1 | _aVaz, Frédéric M | |
| 700 | 1 | _aCooper, David N | |
| 700 | 1 | _aGuerrini, Renzo | |
| 700 | 1 | _aMorrone, Amelia | |
| 773 | 0 |
_tEuropean journal of human genetics : EJHG _gvol. 23 _gno. 12 _gp. 1708-12 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1038/ejhg.2015.50 _zAvailable from publisher's website |
| 999 |
_c24717486 _d24717486 |
||