Ocular phenotypes associated with biallelic mutations in BEST1 in Italian patients

Molecular Vision

Volumn 17, Issue , 2011, Pages 3078-3087

  Sodi, Andrea ^a   Menchini, Francesca ^b   Manitto, Maria Pia ^c   Passerini, Ilaria ^d   Murro, Vittoria ^a   Torricelli, Francesca ^d   Menchini, Ugo ^a  

^a UNIVERSITY OF FLORENCE   (Italy)

^b UNIVERSITY OF UDINE   (Italy)

^c SAN RAFFAELE HOSPITAL   (Italy)

^d CAREGGI UNIVERSITY HOSPITAL   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL RECESSIVE BESTROPHINOPATHY; BEST VITELLIFORM MACULAR DYSTROPHY; BEST1 GENE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; EYE EXAMINATION; EYE PHOTOGRAPHY; FEMALE; GENE; GENE AMPLIFICATION; GENE CLUSTER; GENE DELETION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE ENVIRONMENT INTERACTION; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOTE; HUMAN; ITALY; MALE; MISSENSE MUTATION; MOLECULAR GENETICS; OPHTHALMOSCOPY; OPTICAL COHERENCE TOMOGRAPHY; PEDIGREE; PHENOTYPIC VARIATION; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; RETINA DISEASE; SENSORY SYSTEM ELECTROPHYSIOLOGY; SEQUENCE ANALYSIS;

ADOLESCENT; ADULT; ALLELES; CASE-CONTROL STUDIES; CHILD; CHLORIDE CHANNELS; DNA MUTATIONAL ANALYSIS; ELECTROOCULOGRAPHY; EYE PROTEINS; FEMALE; GENES, RECESSIVE; GENOTYPE; HOMOZYGOTE; HUMANS; ITALY; MALE; MIDDLE AGED; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; RETINA; SEQUENCE DELETION; TOMOGRAPHY, OPTICAL COHERENCE; VITELLIFORM MACULAR DYSTROPHY;

EID: 83055198506     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

References (26)

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