Macular corneal dystrophy type I and type II are caused by distinct mutations in a new sulphotransferase gene

Nature Genetics

Volumn 26, Issue 2, 2000, Pages 237-241

  Akama, Tomoya O ^a   Nishida, Kohji ^b,e   Nakayama, Jun ^c,d   Watanabe, Hitoshi ^e   Ozaki, Kouichi ^f   Nakamura, Takahiro ^b   Dota, Atsuyoshi ^b   Kawasaki, Satoshi ^b   Inoue, Yoshitsugu ^e   Maeda, Naoyuki ^e   Yamamoto, Shuji ^e   Fujiwara, Tsutomu ^f   Thonar, Eugene J M A ^g   Shimomura, Yoshikazu ^e   Kinoshita, Shigeru ^b   Tanigami, Akira ^f   Fukuda, Michiko N ^a  

^a BURNHAM INSTITUTE   (United States)

^b KYOTO PREFECTURAL UNIVERSITY OF MEDICINE   (Japan)

^c SHINSHU UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^d SHINSHU UNIVERSITY HOSPITAL   (Japan)

^e OSAKA UNIVERSITY MEDICAL SCHOOL   (Japan)

^f OTSUKA PHARMACEUTICAL CO LTD   (Japan)

^g RUSH MEDICAL COLLEGE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

SULFOTRANSFERASE;

ARTICLE; CHROMOSOME 16Q; CLINICAL ARTICLE; CONTROLLED STUDY; CORNEA DYSTROPHY; CORNEA OPACITY; CORNEA TRANSPLANTATION; DISEASE CLASSIFICATION; GENE DELETION; GENE EXPRESSION; GENE MAPPING; GENE MUTATION; GENETIC RECOMBINATION; GENOTYPE; HUMAN; PHENOTYPE; PRIORITY JOURNAL; VISUAL IMPAIRMENT;

AMINO ACID SEQUENCE; BASE SEQUENCE; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 16; CORNEAL DYSTROPHIES, HEREDITARY; EXPRESSED SEQUENCE TAGS; FEMALE; GENETIC MARKERS; HUMAN; KERATAN SULFATE; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; SEQUENCE ALIGNMENT; SEQUENCE HOMOLOGY, AMINO ACID; SULFOTRANSFERASES; SUPPORT, NON-U.S. GOV'T; SUPPORT, U.S. GOV'T, P.H.S.;

EID: 0033781982     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/79987     Document Type: Article

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