Three novel mutations of the PAX6 gene in Japanese aniridia patients

Journal of Human Genetics

Volumn 52, Issue 7, 2007, Pages 571-574

  Kawano, Toshio ^a   Wang, Chunxia ^a   Hotta, Yoshihiro ^a   Sato, Miho ^a   Iwata Amano, Emi ^b   Hikoya, Akiko ^a   Fujita, Naoya ^c   Koyama, Norihisa ^c   Shirai, Shoichiro ^c   Azuma, Noriyuki ^d   Ohtsubo, Masafumi ^a   Shimizu, Nobuyoshi ^e   Minoshima, Shinsei ^a  

^a HAMAMATSU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b NAGOYA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^c TOYOHASHI MUNICIPAL HOSPITAL   (Japan)

^d NATIONAL CENTER FOR CHILD HEALTH AND DEVELOPMENT   (Japan)

^e KEIO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

Aniridia; Database; Mutation; PAX6; VATER association

Indexed keywords

TRANSCRIPTION FACTOR PAX6;

ALLELE; ANIRIDIA; ARTICLE; CLINICAL ARTICLE; FEMALE; FRAMESHIFT MUTATION; GENE MUTATION; GENE SEQUENCE; HUMAN; JAPANESE; MALE; MOLECULAR CLONING; MUTATIONAL ANALYSIS; RNA TRANSLATION; STRABISMUS; VATER PAPILLA;

ANIRIDIA; BASE SEQUENCE; DNA MUTATIONAL ANALYSIS; EYE PROTEINS; FEMALE; FRAMESHIFT MUTATION; HOMEODOMAIN PROTEINS; HUMANS; JAPAN; MALE; MUTAGENESIS, INSERTIONAL; PAIRED BOX TRANSCRIPTION FACTORS; POINT MUTATION; REPRESSOR PROTEINS; SEQUENCE DELETION;

EID: 34347334478     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10038-007-0153-2     Document Type: Article

References (13)

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