Phenotypic variability in a French family with a novel mutation in the BEST1 gene causing multifocal best vitelliform macular dystrophy

Molecular Vision

Volumn 17, Issue , 2011, Pages 309-322

  Lacassagne, Emmanuelle ^a   Dhuez, Aurore ^a   Rigaudière, Florence ^b   Dansault, Anouk ^a   Vêtu, Christelle ^a   Bigot, Karine ^a   Vieira, Véronique ^a   Puech, Bernard ^c   Defoort Dhellemmes, Sabine ^c   Abitbol, Marc ^a,d  

^a UNIVERSITÉ PARIS DESCARTES   (France)

^b HÔPITAL LARIBOISIÈRE   (France)

^c LILLE UNIVERSITY HOSPITAL   (France)

^d HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

[No Author keywords available]

Indexed keywords

BESTROPHIN 1; GENE PRODUCT; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CAUSAL ATTRIBUTION; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE SEVERITY; EXON; FAMILY STUDY; FEMALE; FRANCE; GENE FUNCTION; GENE MUTATION; GENETIC RISK; GENETIC SCREENING; HETEROZYGOSITY; HUMAN; MALE; NUCLEIC ACID BASE SUBSTITUTION; PATHOGENESIS; PHENOTYPIC VARIATION; PRIORITY JOURNAL; RETINA DETACHMENT; RETINA MACULA VITELLIFORM DEGENERATION; SCHOOL CHILD; SEQUENCE ANALYSIS; VISUAL ACUITY; VISUAL FIELD DEFECT;

ADOLESCENT; ADULT; ALLELES; CHILD; CHLORIDE CHANNELS; ELECTROOCULOGRAPHY; ELECTRORETINOGRAPHY; EXONS; EYE PROTEINS; FAMILY HEALTH; FEMALE; FRANCE; HUMANS; MALE; MIDDLE AGED; MUTATION; PEDIGREE; PHENOTYPE; RETINA; SEQUENCE ANALYSIS, DNA; TOMOGRAPHY, OPTICAL COHERENCE; VITELLIFORM MACULAR DYSTROPHY;

EID: 79551699140     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

References (33)

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