Mutations in CNNM4 cause recessive cone-rod dystrophy with amelogenesis imperfecta

American Journal of Human Genetics

Volumn 84, Issue 2, 2008, Pages 259-265

  Polok, Bozena ^a,b   Escher, Pascal ^a,b   Ambresin, Aude ^b,c   Chouery, Eliane ^d   Bolay, Sylvain ^a   Meunier, Isabelle ^e   Nan, Francis ^e   Hamel, Christian ^e   Munier, Francis L ^b,c   Thilo, Bernard ^f   Mégarban ace, André ^d,g   Schorderet, Daniel F ^a,a,b,b,h,h  

^a Institut de Recherche en Ophtalmologie   (Switzerland)

^b UNIVERSITY OF LAUSANNE   (Switzerland)

^c JULES GONIN EYE HOSPITAL   (Switzerland)

^d SAINT JOSEPH UNIVERSITY   (Lebanon)

^e MONTPELLIER UNIVERSITY HOSPITAL   (France)

^f Private Dental Practice   (Switzerland)

^g Institut Jerome Lejeune   (France)

^h EPFL   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

ANCIENT CONSERVED DOMAIN PROTEIN 4; CARRIER PROTEIN; UNCLASSIFIED DRUG; CATION TRANSPORT PROTEIN; CNNM4 PROTEIN, HUMAN;

ADOLESCENT; ADULT; AMELOGENESIS IMPERFECTA; ARTICLE; CHILD; CLINICAL ARTICLE; FEMALE; GENE FUNCTION; GENE LOCUS; GENE MUTATION; GENETIC ASSOCIATION; GENOME ANALYSIS; HAPLOTYPE; HUMAN; ION TRANSPORT; MUTATIONAL ANALYSIS; PRESCHOOL CHILD; PRIORITY JOURNAL; RECESSIVE INHERITANCE; RETINA DYSTROPHY; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; GENE DELETION; GENE DUPLICATION; GENETICS; MALE; MUTATION; PATHOLOGY; PEDIGREE; RECESSIVE GENE; RETINA CONE; RETINA ROD; RETINITIS PIGMENTOSA;

AMELOGENESIS IMPERFECTA; CATION TRANSPORT PROTEINS; FEMALE; GENE DUPLICATION; GENES, RECESSIVE; HUMANS; MALE; MUTATION; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; RETINAL CONE PHOTORECEPTOR CELLS; RETINAL ROD PHOTORECEPTOR CELLS; RETINITIS PIGMENTOSA; SEQUENCE DELETION;

EID: 62649137802     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajhg.2009.01.006     Document Type: Article

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