| 000 | 01836 a2200541 4500 | ||
|---|---|---|---|
| 005 | 20250517135340.0 | ||
| 264 | 0 | _c20180118 | |
| 008 | 201801s 0 0 eng d | ||
| 022 | _a1435-232X | ||
| 024 | 7 |
_a10.1038/jhg.2017.11 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aInui, Takehiko | |
| 245 | 0 | 0 |
_aA novel mutation in the proteolytic domain of LONP1 causes atypical CODAS syndrome. _h[electronic resource] |
| 260 |
_bJournal of human genetics _cJun 2017 |
||
| 300 |
_a653-655 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 |
_aATP-Dependent Proteases _xgenetics |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 |
_aCraniofacial Abnormalities _xgenetics |
| 650 | 0 | 4 |
_aExome _xgenetics |
| 650 | 0 | 4 |
_aEye Abnormalities _xgenetics |
| 650 | 0 | 4 |
_aFrameshift Mutation _xgenetics |
| 650 | 0 | 4 | _aGenetic Predisposition to Disease |
| 650 | 0 | 4 |
_aGrowth Disorders _xgenetics |
| 650 | 0 | 4 |
_aHip Dislocation, Congenital _xgenetics |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aIntellectual Disability _xgenetics |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMitochondrial Proteins _xgenetics |
| 650 | 0 | 4 |
_aOsteochondrodysplasias _xgenetics |
| 650 | 0 | 4 |
_aProtein Domains _xgenetics |
| 650 | 0 | 4 |
_aSpinocerebellar Degenerations _xgenetics |
| 650 | 0 | 4 |
_aTooth Abnormalities _xgenetics |
| 700 | 1 | _aAnzai, Mai | |
| 700 | 1 | _aTakezawa, Yusuke | |
| 700 | 1 | _aEndo, Wakaba | |
| 700 | 1 | _aKakisaka, Yosuke | |
| 700 | 1 | _aKikuchi, Atsuo | |
| 700 | 1 | _aOnuma, Akira | |
| 700 | 1 | _aKure, Shigeo | |
| 700 | 1 | _aNishino, Ichizo | |
| 700 | 1 | _aOhba, Chihiro | |
| 700 | 1 | _aSaitsu, Hirotomo | |
| 700 | 1 | _aMatsumoto, Naomichi | |
| 700 | 1 | _aHaginoya, Kazuhiro | |
| 773 | 0 |
_tJournal of human genetics _gvol. 62 _gno. 6 _gp. 653-655 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1038/jhg.2017.11 _zAvailable from publisher's website |
| 999 |
_c26839983 _d26839983 |
||