A novel mutation in the alternative splice region of the PAK6 gene in a patient with Peters' anomaly [6]

British Journal of Ophthalmology

Volumn 88, Issue 5, 2004, Pages 720-721

  Nanjo, Y ^a   Kawasaki, S ^a   Mari, K ^a   Sotozono, C ^a   Inatomi, T ^a   Kinoshita, S ^a  

^a KYOTO PREFECTURAL UNIVERSITY OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

TRANSCRIPTION FACTOR PAX6;

ADULT; ANAMNESIS; CASE REPORT; CLINICAL FEATURE; CORNEA OPACITY; FAMILY HISTORY; FEMALE; GENE AMPLIFICATION; GENE MUTATION; GENE SEQUENCE; HUMAN; LETTER; MALE; MEDICAL ETHICS; PETERS ANOMALY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROMOTER REGION; SEQUENCE ANALYSIS; SPLICEOSOME; UNIVERSITY HOSPITAL;

ADULT; ALTERNATIVE SPLICING; ANTERIOR EYE SEGMENT; EYE PROTEINS; FEMALE; HOMEODOMAIN PROTEINS; HUMANS; MALE; MUTATION, MISSENSE; PAIRED BOX TRANSCRIPTION FACTORS; PEDIGREE; REPRESSOR PROTEINS;

EID: 1942453387     PISSN: 00071161     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Letter

References (5)

1. Hanson IM, Fletcher JM, Jordan T, et al. Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly. Nature Genet 1994;6:168-73.
2. Azuma N, Nishina S, Yanagisawa H, et al. PAX6 missense mutation in isolated foveal hypoplasia. Nature Genet 1996;13:141-2.
3. Azuma N, Yamaguchi Y, Handa H, et al. Missense mutation in the alternative splice region of the PAX6 gene in the eye anomalies. Am J Hum Genet 1999;65:656-63.
4. Saiki RK, Gelfand DH, Stoffel S, et al. Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase. Science 1998;239:487-91.
5. Epstein JA, Glaser T, Cai J, et al. Two independent and interactive DNA-binding subdomains of the Pax6 paired domain are regulated by alternative splicing. Genes Dev 1994;8:2022-34.