A new mutation in the RP1L1 gene in a patient with occult macular dystrophy associated with a depolarizing pattern of focal macular electroretinograms

Molecular Vision

Volumn 18, Issue , 2012, Pages 1031-1039

  Kabuto, Takenori ^a   Takahashi, Hisatomo ^a   Goto Fukuura, Yoko ^a   Igarashi, Tsutomu ^b   Akahori, Masakazu ^c   Kameya, Shuhei ^a   Iwata, Takeshi ^c   Mizota, Atsushi ^d   Yamaki, Kunihiko ^a   Miyake, Yozo ^c,e   Takahashi, Hiroshi ^b  

^a NIPPON MEDICAL SCHOOL CHIBA HOKUSOH HOSPITAL   (Japan)

^b NIPPON MEDICAL SCHOOL   (Japan)

^c NATIONAL HOSPITAL ORGANIZATION TOKYO MEDICAL CENTER   (Japan)

^d TEIKYO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^e AICHI MEDICAL UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

CYSTEINE; EYE PROTEIN; RP1 LIKE PROTEIN 1; SERINE; UNCLASSIFIED DRUG;

ADULT; ALLELE; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CONTROLLED STUDY; DEPOLARIZATION; ELECTRORETINOGRAM; FEMALE; GENE; GENE MUTATION; GENETIC VARIABILITY; HUMAN; NUCLEOTIDE SEQUENCE; OCCULT MACULAR DYSTROPHY; PRIORITY JOURNAL; RETINA BIPOLAR GANGLION CELL; RETINA MACULA DEGENERATION; RP1L1 GENE; WAVEFORM;

AMINO ACID SUBSTITUTION; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; CASE-CONTROL STUDIES; ELECTRORETINOGRAPHY; EXONS; EYE PROTEINS; FEMALE; HUMANS; INTRONS; MACULAR DEGENERATION; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; RETINA; SEQUENCE ANALYSIS, DNA;

EID: 84860877705     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

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