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