000			02076 a2200637 4500
005			20250516124938.0
264		0	_c20130312
008			201303s 0 0 eng d
022			_a1537-6605
024	7		_a10.1016/j.ajhg.2012.10.023 _2doi
040			_aNLM _beng _cNLM
100	1		_aZeitz, Christina
245	0	0	_aWhole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindness. _h[electronic resource]
260			_bAmerican journal of human genetics _cJan 2013
300			_a67-75 p. _bdigital
500			_aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
650	0	4	_aExome
650	0	4	_aEye Diseases, Hereditary _xgenetics
650	0	4	_aFemale
650	0	4	_aGenetic Diseases, X-Linked _xgenetics
650	0	4	_aHumans
650	0	4	_aMale
650	0	4	_aMembrane Proteins _xanalysis
650	0	4	_aMiddle Aged
650	0	4	_aMutation
650	0	4	_aMyopia _xgenetics
650	0	4	_aNight Blindness _xgenetics
650	0	4	_aPolymorphism, Genetic
650	0	4	_aRetina _xchemistry
700	1		_aJacobson, Samuel G
700	1		_aHamel, Christian P
700	1		_aBujakowska, Kinga
700	1		_aNeuillé, Marion
700	1		_aOrhan, Elise
700	1		_aZanlonghi, Xavier
700	1		_aLancelot, Marie-Elise
700	1		_aMichiels, Christelle
700	1		_aSchwartz, Sharon B
700	1		_aBocquet, Béatrice
700	1		_aAntonio, Aline
700	1		_aAudier, Claire
700	1		_aLetexier, Mélanie
700	1		_aSaraiva, Jean-Paul
700	1		_aLuu, Tien D
700	1		_aSennlaub, Florian
700	1		_aNguyen, Hoan
700	1		_aPoch, Olivier
700	1		_aDollfus, Hélène
700	1		_aLecompte, Odile
700	1		_aKohl, Susanne
700	1		_aSahel, José-Alain
700	1		_aBhattacharya, Shomi S
700	1		_aAudo, Isabelle
773	0		_tAmerican journal of human genetics _gvol. 92 _gno. 1 _gp. 67-75
856	4	0	_uhttps://doi.org/10.1016/j.ajhg.2012.10.023 _zAvailable from publisher's website
999			_c22351993 _d22351993