Mutations in IMPG1 cause vitelliform macular dystrophies

American Journal of Human Genetics

Volumn 93, Issue 3, 2013, Pages 571-578

  Manes, Gaël ^a,b   Meunier, Isabelle ^a,b,c   Avila Fernández, Almudena ^d   Banfi, Sandro ^e   Le Meur, Guylène ^f   Zanlonghi, Xavier ^g   Corton, Marta ^d   Simonelli, Francesca ^e   Brabet, Philippe ^a,b   Labesse, Gilles ^h   Audo, Isabelle ^i,j,k   Mohand Said, Saddek ^i,j,k   Zeitz, Christina ^i,j   Sahel, José Alain ^i,j,k,l,m   Weber, Michel ^f   Dollfus, Hélène ⁿ   Dhaenens, Claire Marie ^o   Allorge, Delphine ^p   De Baere, Elfride ^b   Koenekoop, Robert K ^q   Kohl, Susanne ^r   Cremers, Frans P M ^s   Hollyfield, Joe G ^t   Sénéchal, Audrey ^a,b   Hebrard, Maxime ^a,b   Bocquet, Béatrice ^a,b   García, Carmen Ayuso ^d   Hamel, Christian P ^a,b,c   more..

^a Montpellier University Medical Center   (France)

^b UNIV MONTPELLIER   (France)

^c MONTPELLIER UNIVERSITY HOSPITAL   (France)

^d INSTITUTO DE SALUD CARLOS III   (Spain)

^e SECOND UNIVERSITY OF NAPLES   (Italy)

^f NANTES UNIVERSITY HOSPITAL   (France)

^g Clinique Sourdille   (France)

^h CNRS   (France)

ⁱ Institut de la Vision   (France)

^j INSTITUT DE LA VISION   (France)

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

^l Fondation Ophtalmologique Adolphe de Rotheschild   (France)

^m Académie des Sciences Institut de France Paris   (France)

ⁿ UNIVERSITY HOSPITAL OF STRASBOURG   (France)

^o LILLE UNIVERSITY HOSPITAL   (France)

^p GHENT UNIVERSITY HOSPITAL   (Belgium)

^q MONTREAL CHILDREN S HOSPITAL   (Canada)

^r UNIVERSITY OF TÜBINGEN   (Germany)

^s RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^t LERNER RESEARCH INSTITUTE   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CLINICAL ARTICLE; ELECTROOCULOGRAM; EXOME; EXTRACELLULAR MATRIX; FEMALE; GENE; GENE MAPPING; GENETIC VARIABILITY; HETEROZYGOSITY; HUMAN; MALE; MISSENSE MUTATION; MPG1 GENE; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PHENOTYPE; PHOTORECEPTOR CELL; PRIORITY JOURNAL; PROTEIN DOMAIN; RETINA MACULA VITELLIFORM DEGENERATION; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM;

ADULT; AMINO ACID SEQUENCE; BASE SEQUENCE; CHROMOSOMES, HUMAN; EXTRACELLULAR MATRIX PROTEINS; EYE PROTEINS; FEMALE; FUNDUS OCULI; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INHERITANCE PATTERNS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PHENOTYPE; PROTEOGLYCANS; VITELLIFORM MACULAR DYSTROPHY; YOUNG ADULT;

EID: 84883789732     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2013.07.018     Document Type: Article

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