A novel p.Gly603Arg mutation in CACNA1F causes Åland island eye disease and incomplete congenital stationary night blindness phenotypes in a family

Molecular Vision

Volumn 17, Issue , 2011, Pages 3262-3270

  Vincent, Ajoy ^a   Wright, Tom ^a   Day, Megan A ^a   Westall, Carol A ^a   Héon, Elise ^a  

^a HOSPITAL FOR SICK CHILDREN   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ALAND ISLAND EYE DISEASE; ARTICLE; CACNA1F GENE; CASE REPORT; CHILD; COLOR BLINDNESS; CONTRAST SENSITIVITY; CONTROLLED STUDY; ELECTRORETINOGRAM; EYE DISEASE; FAMILIAL DISEASE; FEMALE; GENE; GENETIC RISK; HAPLOTYPE; HEMIZYGOSITY; HIGH MYOPIA; HUMAN; HYPOPIGMENTATION; HYPOPLASIA; INCOMPLETE CONGENITAL STATIONARY NIGHT BLINDNESS; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHOTOPHOBIA; PRESCHOOL CHILD; PRIORITY JOURNAL; SPECTRAL DOMAIN OPTICAL COHERENCE TOMOGRAPHY; VISUAL ACUITY; X CHROMOSOME LINKED DISORDER;

BASE SEQUENCE; CALCIUM CHANNELS, L-TYPE; CHILD; DNA MUTATIONAL ANALYSIS; ELECTRORETINOGRAPHY; GENETIC DISEASES, X-LINKED; HUMANS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; MYOPIA; NIGHT BLINDNESS; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION; RETINAL ROD PHOTORECEPTOR CELLS; VISUAL FIELD TESTS;

EID: 84856153244     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

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