Isolated foveal hypoplasia with secondary nystagmus and low vision is associated with a homozygous SLC38A8 mutation

European Journal of Human Genetics

Volumn 22, Issue 5, 2014, Pages 703-706

  Perez, Yonatan ^a   Gradstein, Libe ^a   Flusser, Hagit ^a   Markus, Barak ^a   Cohen, Idan ^a   Langer, Yshaia ^a   Marcus, Mira ^a   Lifshitz, Tova ^a   Kadir, Rotem ^a   Birk, Ohad S ^a  

^a BEN GURION UNIVERSITY OF THE NEGEV   (Israel)

Author keywords

congenital nystagmus; foveal hypoplasia; homozygosity mapping; SLC38A8

Indexed keywords

MEMBRANE PROTEIN; SLC38A8 PROTEIN; UNCLASSIFIED DRUG; AMINO ACID TRANSPORTER; SLC38A8 PROTEIN, HUMAN;

ADOLESCENT; ADULT; AGED; ANIMAL TISSUE; ARTICLE; ASTIGMATISM; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DIABETES MELLITUS; EYE DEVELOPMENT; FOVEAL HYPOPLASIA; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC LINKAGE; HIGH MYOPIA; HOMOZYGOSITY; HUMAN; HYPERMETROPIA; HYPERTENSION; HYPOPLASIA; LINKAGE ANALYSIS; LOW VISION; MICROSATELLITE MARKER; MISSENSE MUTATION; MOUSE; NONHUMAN; NYSTAGMUS; PHENOTYPE; PRIORITY JOURNAL; REFRACTION ERROR; RETINA DISEASE; SINGLE NUCLEOTIDE POLYMORPHISM; STRABISMUS; VISUAL ACUITY; COMPLICATION; CONGENITAL NYSTAGMUS; EYE DISEASE; FEMALE; GENE EXPRESSION REGULATION; GENETICS; HOMOZYGOTE; INFANT; MALE; MIDDLE AGED; MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; PRESCHOOL CHILD; RETINA FOVEA; VISION, LOW; YOUNG ADULT;

ADOLESCENT; ADULT; AGED; AMINO ACID TRANSPORT SYSTEMS, NEUTRAL; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; EYE DISEASES, HEREDITARY; FEMALE; FOVEA CENTRALIS; GENE EXPRESSION REGULATION; GENETIC LINKAGE; GENOME-WIDE ASSOCIATION STUDY; HOMOZYGOTE; HUMANS; INFANT; MALE; MIDDLE AGED; MUTATION; NYSTAGMUS, CONGENITAL; PEDIGREE; PHENOTYPE; VISION, LOW; YOUNG ADULT;

EID: 84898805530     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2013.212     Document Type: Article

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