The familial dementia gene revisited: A missense mutation revealed by whole-exome sequencing identifies ITM2B as a candidate gene underlying a novel autosomal dominant retinal dystrophy in a large family

Human Molecular Genetics

Volumn 23, Issue 2, 2014, Pages 491-501

  Audo, Isabelle ^a,b,c,d,e   Bujakowska, Kinga ^a,b,c   Orhan, Elise ^a,b,c   El Shamieh, Said ^a,b,c   Sennlaub, Florian ^a,b,c   Guillonneau, Xavier ^a,b,c   Antonio, Aline ^a,b,c   Michiels, Christelle ^a,b,c   Lancelot, Marie Elise ^a,b,c   Letexier, Melanie ^f   Saraiva, Jean Paul ^f   Nguyen, Hoan ^g   Luu, Tien D ^g   Léveillard, Thierry ^a,b,c   Poch, Olivier ^g   Dollfus, Héléne ^h,i   Paques, Michel ^a,b,c,d   Goureau, Olivier ^a,b,c   Mohand Saïd, Saddek ^a,b,c,d   Bhattacharya, Shomi S ^a,b,c,e,j   Sahel, José Alain ^a,b,c,d,k,l   Zeitz, Christina ^a,b,c   more..

^a INSERM   (France)

^b CNRS   (France)

^c INSTITUT DE LA VISION   (France)

^d CENTRE HOSPITALIER NATIONAL D OPHTALMOLOGIE DES QUINZE VINGTS   (France)

^e UNIVERSITY COLLEGE LONDON   (United Kingdom)

^f IntegraGen SA   (France)

^g INSTITUT DE GÉNÉTIQUE ET DE BIOLOGIE MOLÉCULAIRE ET CELLULAIRE   (France)

^h UNIVERSITY HOSPITAL OF STRASBOURG   (France)

ⁱ UNIVERSITÉ DE STRASBOURG   (France)

^j CABIMER Andalusian Center for Molecular Biology and Regenerative Medicine CSIC University of Seville UPO   (Spain)

^k FONDATION OPHTALMOLOGIQUE ADOLPHE DE ROTHSCHILD   (France)

^l Academie des Sciences   (France)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; AMYLOID PRECURSOR PROTEIN; GLUTAMIC ACID; INTEGRAL MEMBRANE PROTEIN 2B; MEMBRANE PROTEIN; MESSENGER RNA; UNCLASSIFIED DRUG;

ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BRAIN TISSUE; CLINICAL ARTICLE; CONTROLLED STUDY; ELECTRORETINOGRAM; FAMILIAL DISEASE; FEMALE; GENE IDENTIFICATION; GENETIC ANALYSIS; GENETIC PROCEDURES; GENETIC SCREENING; GENETIC VARIABILITY; HUMAN; IMMUNOHISTOCHEMISTRY; IN SITU HYBRIDIZATION; IN VITRO STUDY; INNER RETINAL DYSFUNCTION; MALE; MICROSATELLITE HAPLOTYPING; MISSENSE MUTATION; NERVE CELL; OPTIC NERVE FIBER; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN LOCALIZATION; RETINA BIPOLAR GANGLION CELL; RETINA DISEASE; RETINA DYSTROPHY; RNA HYBRIDIZATION; SEQUENCE ANALYSIS; WHOLE EXOME SEQUENCING;

AGED; AMYLOID BETA-PROTEIN PRECURSOR; DEMENTIA; EXOME; FEMALE; GENETIC ASSOCIATION STUDIES; GENOTYPE; HUMANS; MALE; MEMBRANE GLYCOPROTEINS; MIDDLE AGED; MUTATION, MISSENSE; PHENOTYPE; RETINA; RETINAL DYSTROPHIES; SEQUENCE ANALYSIS, DNA;

EID: 84898017685     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddt439     Document Type: Article

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