Dominant mutations in RP1L1 are responsible for occult macular dystrophy

American Journal of Human Genetics

Volumn 87, Issue 3, 2010, Pages 424-429

  Akahori, Masakazu ^a   Tsunoda, Kazushige ^a   Miyake, Yozo ^a,b   Fukuda, Yoko ^c   Ishiura, Hiroyuki ^c   Tsuji, Shoji ^c   Usui, Tomoaki ^d   Hatase, Tetsuhisa ^d   Nakamura, Makoto ^e   Ohde, Hisao ^f   Itabashi, Takeshi ^a   Okamoto, Haru ^a   Takada, Yuichiro ^a   Iwata, Takeshi ^a  

^a NATIONAL HOSPITAL ORGANIZATION TOKYO MEDICAL CENTER   (Japan)

^b AICHI MEDICAL UNIVERSITY   (Japan)

^c UNIVERSITY OF TOKYO   (Japan)

^d NIIGATA UNIVERSITY   (Japan)

^e Nakamura Eye Clinic   (Japan)

^f KEIO UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

CELL CYCLE PROTEIN; EYE PROTEIN; METHIONINE SULFOXIDE REDUCTASE A; PROTEIN PERICENTRIOLAR MATERIAL 1; PROTEIN RETINITIS PIGMENTOSA 1 LIKE 1; TRANSCRIPTION FACTOR GATA 4; UNCLASSIFIED DRUG; RP1L1 PROTEIN, HUMAN;

AMINO ACID SUBSTITUTION; ARTICLE; CHROMOSOME 8P; GENE EXPRESSION; GENE MUTATION; HAPLOTYPE; HUMAN; IMMUNOHISTOCHEMISTRY; LINKAGE ANALYSIS; NONHUMAN; OCCULT MACULAR DYSTROPHY; PRIORITY JOURNAL; RETINA MACULA DEGENERATION; SINGLE NUCLEOTIDE POLYMORPHISM; ADOLESCENT; ADULT; AGED; AMINO ACID SEQUENCE; ANIMAL; CHEMISTRY; CHILD; DOMINANT GENE; FAMILY; FEMALE; GENETIC LINKAGE; GENETICS; MACACA FASCICULARIS; MACULAR DEGENERATION; MALE; MIDDLE AGED; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; PEDIGREE; RETINA; VERY ELDERLY; YOUNG ADULT;

MACACA FASCICULARIS;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; CHILD; DNA MUTATIONAL ANALYSIS; EYE PROTEINS; FAMILY; FEMALE; GENES, DOMINANT; GENETIC LINKAGE; HAPLOTYPES; HUMANS; IMMUNOHISTOCHEMISTRY; MACACA FASCICULARIS; MACULAR DEGENERATION; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; RETINA; YOUNG ADULT;

EID: 77956389326     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajhg.2010.08.009     Document Type: Article

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