| 000 | 01571 a2200469 4500 | ||
|---|---|---|---|
| 005 | 20250514033518.0 | ||
| 264 | 0 | _c20020722 | |
| 008 | 200207s 0 0 eng d | ||
| 022 | _a1434-5161 | ||
| 024 | 7 |
_a10.1007/s100380200030 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aSakamoto, Osamu | |
| 245 | 0 | 0 |
_aNovel missense mutation (R94S) in the TAZ ( G4.5) gene in a Japanese patient with Barth syndrome. _h[electronic resource] |
| 260 |
_bJournal of human genetics _c2002 |
||
| 300 |
_a229-31 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAcyltransferases |
| 650 | 0 | 4 |
_aCardiomyopathy, Dilated _xgenetics |
| 650 | 0 | 4 | _aDNA Mutational Analysis |
| 650 | 0 | 4 |
_aDNA Primers _xchemistry |
| 650 | 0 | 4 |
_aDNA-Binding Proteins _xgenetics |
| 650 | 0 | 4 |
_aGlutarates _xmetabolism |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 | _aJapan |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMuscular Diseases _xgenetics |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 |
_aMutation, Missense _xgenetics |
| 650 | 0 | 4 |
_aNeutropenia _xgenetics |
| 650 | 0 | 4 | _aPolymerase Chain Reaction |
| 650 | 0 | 4 | _aProteins |
| 650 | 0 | 4 | _aSyndrome |
| 650 | 0 | 4 |
_aTranscription Factors _xgenetics |
| 650 | 0 | 4 |
_aX Chromosome _xgenetics |
| 700 | 1 | _aKitoh, Toshiyuki | |
| 700 | 1 | _aOhura, Toshihiro | |
| 700 | 1 | _aOhya, Noriaki | |
| 700 | 1 | _aIinuma, Kazuie | |
| 773 | 0 |
_tJournal of human genetics _gvol. 47 _gno. 5 _gp. 229-31 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1007/s100380200030 _zAvailable from publisher's website |
| 999 |
_c11929940 _d11929940 |
||