A novel missense mutation (Leu46Val) of PAX6 found in an autistic patient

Neuroscience Letters

Volumn 462, Issue 3, 2009, Pages 267-271

  Maekawa, Motoko ^a   Iwayama, Yoshimi ^a   Nakamura, Kazuhiko ^b   Sato, Miho ^b   Toyota, Tomoko ^a   Ohnishi, Tetsuo ^a   Yamada, Kazuo ^a   Miyachi, Taishi ^b   Tsujii, Masatsugu ^b,c   Hattori, Eiji ^a   Maekawa, Nobuo ^d   Osumi, Noriko ^e,f   Mori, Norio ^b   Yoshikawa, Takeo ^a,f  

^a RIKEN BRAIN SCIENCE INSTITUTE   (Japan)

^b HAMAMATSU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^c CHUKYO UNIVERSITY   (Japan)

^d Maekawa Eye Clinic   (Japan)

^e TOHOKU UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^f JAPAN SCIENCE AND TECHNOLOGY AGENCY   (Japan)

Author keywords

Aniridia; Autism; Missense mutation; PAX6

Indexed keywords

LEUCINE; TRANSCRIPTION FACTOR PAX6; VALINE;

ADOLESCENT; ADULT; ARTICLE; AUTISM; CASE REPORT; CHILD; CONTROLLED STUDY; FEMALE; GENETIC ASSOCIATION; HETEROZYGOSITY; HUMAN; JAPANESE; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PENETRANCE; PHOTOPHOBIA; PRIORITY JOURNAL; PTOSIS; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; VISUAL IMPAIRMENT;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; ASIAN CONTINENTAL ANCESTRY GROUP; AUTISTIC DISORDER; BLEPHAROPTOSIS; CHILD; CHILD, PRESCHOOL; EXONS; EYE PROTEINS; FEMALE; HOMEODOMAIN PROTEINS; HUMANS; INTRONS; JAPAN; MALE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PAIRED BOX TRANSCRIPTION FACTORS; PHOTOPHOBIA; POLYMORPHISM, GENETIC; REPRESSOR PROTEINS; VISION DISORDERS; YOUNG ADULT;

EID: 67849097021     PISSN: 03043940     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.neulet.2009.07.021     Document Type: Article

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