Clinical features of Japanese families with a 402delT or a 555-556delAG mutation in choroideremia gene

Retina

Volumn 24, Issue 6, 2004, Pages 940-945

  Itabashi, Toshitaka ^a   Wada, Yuko ^a   Kawamura, Miyuki ^a   Sato, Hajime ^a   Tamai, Makoto ^a  

^a TOHOKU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

CHM gene; Choroideremia; Clinical variability; Mutation; X linked

Indexed keywords

ADULT; ARTICLE; CHOROIDEREMIA; CHOROIDEREMIA GENE; CLINICAL ARTICLE; CLINICAL EXAMINATION; CLINICAL FEATURE; DELETION MUTANT; ELECTRORETINOGRAPHY; FEMALE; FLUORESCENCE ANGIOGRAPHY; GENE; GENE SEQUENCE; HUMAN; MALE; NIGHT BLINDNESS; PERIMETRY; PIGMENT EPITHELIUM; POLYMERASE CHAIN REACTION; SLIT LAMP; VISUAL ACUITY;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADULT; ALKYL AND ARYL TRANSFERASES; CHOROIDEREMIA; DNA MUTATIONAL ANALYSIS; ELECTRORETINOGRAPHY; FEMALE; FLUORESCEIN ANGIOGRAPHY; GENE DELETION; HUMANS; JAPAN; MALE; MIDDLE AGED; MUTATION; NIGHT BLINDNESS; PEDIGREE; RAB GTP-BINDING PROTEINS;

EID: 10644223452     PISSN: 0275004X     EISSN: None     Source Type: Journal    
DOI: 10.1097/00006982-200412000-00015     Document Type: Article

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