| 000 | 01882 a2200577 4500 | ||
|---|---|---|---|
| 005 | 20250516105419.0 | ||
| 264 | 0 | _c20130612 | |
| 008 | 201306s 0 0 eng d | ||
| 022 | _a1530-0366 | ||
| 024 | 7 |
_a10.1038/gim.2012.90 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aGoubau, Christophe | |
| 245 | 0 | 0 |
_aHomozygosity for aquaporin 7 G264V in three unrelated children with hyperglyceroluria and a mild platelet secretion defect. _h[electronic resource] |
| 260 |
_bGenetics in medicine : official journal of the American College of Medical Genetics _cJan 2013 |
||
| 300 |
_a55-63 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAdolescent |
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 | _aAmino Acid Substitution |
| 650 | 0 | 4 |
_aAquaporin 3 _xgenetics |
| 650 | 0 | 4 |
_aAquaporins _xgenetics |
| 650 | 0 | 4 |
_aBlood Platelet Disorders _xgenetics |
| 650 | 0 | 4 |
_aBlood Platelets _xmetabolism |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 | _aCodon |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aGlycerol _xblood |
| 650 | 0 | 4 | _aHomozygote |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMiddle Aged |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aProtein Transport |
| 650 | 0 | 4 | _aYoung Adult |
| 700 | 1 | _aJaeken, Jaak | |
| 700 | 1 | _aLevtchenko, Elena N | |
| 700 | 1 | _aThys, Chantal | |
| 700 | 1 | _aDi Michele, Michela | |
| 700 | 1 | _aMartens, Geert A | |
| 700 | 1 | _aGerlo, Erik | |
| 700 | 1 | _aDe Vos, Rita | |
| 700 | 1 | _aBuyse, Gunnar M | |
| 700 | 1 | _aGoemans, Nathalie | |
| 700 | 1 | _aVan Geet, Chris | |
| 700 | 1 | _aFreson, Kathleen | |
| 773 | 0 |
_tGenetics in medicine : official journal of the American College of Medical Genetics _gvol. 15 _gno. 1 _gp. 55-63 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1038/gim.2012.90 _zAvailable from publisher's website |
| 999 |
_c22030720 _d22030720 |
||