000 | 02374 a2200757 4500 | ||
---|---|---|---|
005 | 20250516165736.0 | ||
264 | 0 | _c20131105 | |
008 | 201311s 0 0 eng d | ||
022 | _a1537-6605 | ||
024 | 7 |
_a10.1016/j.ajhg.2013.07.018 _2doi |
|
040 |
_aNLM _beng _cNLM |
||
100 | 1 | _aManes, Gaël | |
245 | 0 | 0 |
_aMutations in IMPG1 cause vitelliform macular dystrophies. _h[electronic resource] |
260 |
_bAmerican journal of human genetics _cSep 2013 |
||
300 |
_a571-8 p. _bdigital |
||
500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
650 | 0 | 4 | _aAdult |
650 | 0 | 4 | _aAmino Acid Sequence |
650 | 0 | 4 | _aBase Sequence |
650 | 0 | 4 |
_aChromosomes, Human _xgenetics |
650 | 0 | 4 |
_aExtracellular Matrix Proteins _xchemistry |
650 | 0 | 4 |
_aEye Proteins _xchemistry |
650 | 0 | 4 | _aFemale |
650 | 0 | 4 | _aFundus Oculi |
650 | 0 | 4 | _aGenetic Predisposition to Disease |
650 | 0 | 4 | _aHumans |
650 | 0 | 4 |
_aInheritance Patterns _xgenetics |
650 | 0 | 4 | _aMale |
650 | 0 | 4 | _aMiddle Aged |
650 | 0 | 4 | _aMolecular Sequence Data |
650 | 0 | 4 |
_aMutation _xgenetics |
650 | 0 | 4 | _aPedigree |
650 | 0 | 4 | _aPhenotype |
650 | 0 | 4 |
_aProteoglycans _xchemistry |
650 | 0 | 4 |
_aVitelliform Macular Dystrophy _xgenetics |
650 | 0 | 4 | _aYoung Adult |
700 | 1 | _aMeunier, Isabelle | |
700 | 1 | _aAvila-Fernández, Almudena | |
700 | 1 | _aBanfi, Sandro | |
700 | 1 | _aLe Meur, Guylène | |
700 | 1 | _aZanlonghi, Xavier | |
700 | 1 | _aCorton, Marta | |
700 | 1 | _aSimonelli, Francesca | |
700 | 1 | _aBrabet, Philippe | |
700 | 1 | _aLabesse, Gilles | |
700 | 1 | _aAudo, Isabelle | |
700 | 1 | _aMohand-Said, Saddek | |
700 | 1 | _aZeitz, Christina | |
700 | 1 | _aSahel, José-Alain | |
700 | 1 | _aWeber, Michel | |
700 | 1 | _aDollfus, Hélène | |
700 | 1 | _aDhaenens, Claire-Marie | |
700 | 1 | _aAllorge, Delphine | |
700 | 1 | _aDe Baere, Elfride | |
700 | 1 | _aKoenekoop, Robert K | |
700 | 1 | _aKohl, Susanne | |
700 | 1 | _aCremers, Frans P M | |
700 | 1 | _aHollyfield, Joe G | |
700 | 1 | _aSénéchal, Audrey | |
700 | 1 | _aHebrard, Maxime | |
700 | 1 | _aBocquet, Béatrice | |
700 | 1 | _aAyuso García, Carmen | |
700 | 1 | _aHamel, Christian P | |
773 | 0 |
_tAmerican journal of human genetics _gvol. 93 _gno. 3 _gp. 571-8 |
|
856 | 4 | 0 |
_uhttps://doi.org/10.1016/j.ajhg.2013.07.018 _zAvailable from publisher's website |
999 |
_c23048500 _d23048500 |