Molecular profiling of complete congenital stationary night blindness: A pilot study on an Indian cohort

Molecular Vision

Volumn 20, Issue , 2014, Pages 341-351

  Malaichamy, Sivasankar ^a   Sen, Parveen ^b   Sachidanandam, Ramya ^b   Arokiasamy, Tharigopala ^a   Lancelot, Marie Elise ^c,d,e   Audo, Isabelle ^c,d,e,f,g   Zeitz, Christina ^c,d,e   Soumittra, Nagasamy ^a  

^a VISION RESEARCH FOUNDATION   (India)

^b MEDICAL RESEARCH FOUNDATION   (India)

^c INSERM   (France)

^d CNRS   (France)

^e SORBONNE UNIVERSITÉ   (France)

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

^g UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; AUTOFLUORESCENCE; CASE REPORT; CHILD; COHORT ANALYSIS; COLOR VISION TEST; CONGENITAL BLINDNESS; CONGENITAL STATIONARY NIGHT BLINDNESS; ELECTRORETINOGRAPHY; EYE FUNDUS; FAMILY STUDY; FEMALE; GENE IDENTIFICATION; GENE SEQUENCE; GENETIC SCREENING; GPR179 GENE; GRM6 GENE; HETEROZYGOTE; HOMOZYGOTE; HUMAN; INDIAN; LRIT3 GENE; MALE; MIDDLE AGED; MISSENSE MUTATION; MOLECULAR GENETICS; MUTATIONAL ANALYSIS; NIGHT BLINDNESS; NYX GENE; OPTICAL COHERENCE TOMOGRAPHY; PHENOTYPE; PILOT STUDY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SCHOOL CHILD; TRPM1 GENE; VISUAL SYSTEM EXAMINATION; WAVEFORM; YOUNG ADULT;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; BASE SEQUENCE; CHILD; ELECTRORETINOGRAPHY; EYE DISEASES, HEREDITARY; FAMILY; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC DISEASES, X-LINKED; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; INDIA; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; MYOPIA; NIGHT BLINDNESS; PEDIGREE; PILOT PROJECTS; YOUNG ADULT;

EID: 84897003656     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

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