Mutations in TRPM1 Are a Common Cause of Complete Congenital Stationary Night Blindness

American Journal of Human Genetics

Volumn 85, Issue 5, 2009, Pages 730-736

  van Genderen, Maria M ^a   Bijveld, Mieke M C ^a   Claassen, Yvonne B ^b   Florijn, Ralph J ^b   Pearring, Jillian N ^e   Meire, Francoise M ^f,g   McCall, Maureen A ^d   Riemslag, Frans C C ^a   Gregg, Ronald G ^d,e   Bergen, Arthur A B ^b,c   Kamermans, Maarten ^b,c  

^a Bartimeus Institute for the Visually Impaired   (Netherlands)

^b NETHERLANDS INSTITUTE FOR NEUROSCIENCE   (Netherlands)

^c UNIVERSITY OF AMSTERDAM   (Netherlands)

^d University of Louisville School of Medicine   (United States)

^e UNIVERSITY OF LOUISVILLE   (United States)

^f HOP UNIV DES ENFANTS REINE FABIOLA   (Belgium)

^g GHENT UNIVERSITY HOSPITAL   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CLINICAL ARTICLE; CONGENITAL STATIONARY NIGHT BLINDNESS; DENDRITE; ELECTRORETINOGRAPHY; FEMALE; GENE MUTATION; GRM6 GENE; HUMAN; NIGHT BLINDNESS; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; RETINA BIPOLAR GANGLION CELL; TRPM1 GENE;

AMINO ACID SEQUENCE; CASE-CONTROL STUDIES; CHROMOSOME DELETION; COHORT STUDIES; ELECTRORETINOGRAPHY; EUROPEAN CONTINENTAL ANCESTRY GROUP; EXONS; FEMALE; GENES, RECESSIVE; HETEROZYGOTE; HOMOZYGOTE; HUMANS; MODELS, BIOLOGICAL; MOLECULAR SEQUENCE DATA; MUTATION; MUTATION, MISSENSE; NIGHT BLINDNESS; NUCLEAR FAMILY; RETINAL ROD PHOTORECEPTOR CELLS; SIGNAL TRANSDUCTION; TRPM CATION CHANNELS;

EID: 71849117485     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajhg.2009.10.012     Document Type: Article

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