A novel mutation (967-970+2)delAAAGGT in the choroideremia gene found in a Japanese family and related clinical findings

Japanese Journal of Ophthalmology

Volumn 52, Issue 4, 2008, Pages 289-297

  Iino, Yutaka ^a   Fujimaki, Takuro ^a   Fujiki, Keiko ^a   Murakami, Akira ^a  

^a JUNTENDO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

CHM gene; Choroideremia; Macular dystrophy; Mutation; X linked inheritance

Indexed keywords

GENOMIC DNA;

ADULT; AGED; ARTICLE; BLOOD; CASE REPORT; CHORIORETINOPATHY; CHOROIDEREMIA; CHOROIDEREMIA GENE; DNA EXTRACTION; ELECTRORETINOGRAPHY; EXON; FAMILY; FEMALE; GENE; HETEROZYGOTE; HUMAN; JAPANESE; LEUKOCYTE; MALE; MUTATION; OPHTHALMOLOGY; OPHTHALMOSCOPY; PERIMETRY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SLIT LAMP; VISUAL ACUITY;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADULT; AGED; BASE SEQUENCE; CHOROIDEREMIA; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; ELECTRORETINOGRAPHY; EXONS; FEMALE; FRAMESHIFT MUTATION; HETEROZYGOTE; HUMANS; MALE; NIGHT BLINDNESS; PEDIGREE; POLYMERASE CHAIN REACTION; RAB GTP-BINDING PROTEINS; SEQUENCE DELETION; VISUAL ACUITY; VISUAL FIELDS;

EID: 51349103512     PISSN: 00215155     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10384-008-0564-4     Document Type: Article

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