Clinical and genetic investigation of a large Tunisian family with complete achromatopsia: Identification of a new nonsense mutation in GNAT2 gene

Journal of Human Genetics

Volumn 56, Issue 1, 2011, Pages 22-28

  Ouechtati, Farah ^a,b   Merdassi, Ahlem ^b   Bouyacoub, Yosra ^a,b   Largueche, Leila ^b   Derouiche, Kaouther ^b   Ouragini, Houyem ^a   Nouira, Sonia ^a   Tiab, Leila ^c,d   Baklouti, Karim ^b   Rebai, Ahmed ^e   Schorderet, Daniel F ^c,d,f   Munier, Francis L ^c,d,f   Zografos, Leonidas ^d,f   Abdelhak, Sonia ^a   Matri, Leila El ^b  

^a PASTEUR INSTITUTE OF TUNIS   (Tunisia)

^b Institut Hedi Rais d'Ophtalmologie   (Tunisia)

^c Institute for Research in Ophthalmology   (Switzerland)

^d UNIVERSITY OF LAUSANNE   (Switzerland)

^e CENTRE DE BIOTECHNOLOGIE DE SFAX   (Tunisia)

^f JULES GONIN EYE HOSPITAL   (Switzerland)

Author keywords

complete achromatopsia; linkage to GNAT2; mutation; Tunisian large family

Indexed keywords

CYCLIC NUCLEOTIDE GATED CHANNEL; GUANINE NUCLEOTIDE BINDING PROTEIN ALPHA SUBUNIT; GUANINE NUCLEOTIDE BINDING PROTEIN ALPHA SUBUNIT 2; PHOSPHODIESTERASE VII; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; COLOR BLINDNESS; COLOR VISION; ELECTRORETINOGRAPHY; EYE EXAMINATION; FAMILIAL DISEASE; FEMALE; GENE IDENTIFICATION; GENE SEQUENCE; GENETIC LINKAGE; GENETIC SCREENING; HAPLOTYPE; HUMAN; MALE; MICROSATELLITE MARKER; NONSENSE MUTATION; SCHOOL CHILD; VISION TEST;

ADOLESCENT; ADULT; CHILD; CODON, NONSENSE; COLOR VISION DEFECTS; DNA MUTATIONAL ANALYSIS; EYE PROTEINS; FAMILY; FEMALE; GENETIC ASSOCIATION STUDIES; HUMANS; MALE; MIDDLE AGED; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; TRANSDUCIN; TUNISIA; YOUNG ADULT;

EID: 79251642750     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1038/jhg.2010.128     Document Type: Article

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