Ten novel mutations found in aniridia

Human Mutation

Volumn 12, Issue 5, 1998, Pages 304-313

  Wolf, Matthias T F ^a   Lorenz, B ^b   Winterpacht, A ^a   Drechsler, M ^c   Schumacher, V ^c   Royer Pokora, B ^c   Blankenagel, A ^d   Zabel, B ^a   Wildhardt, G ^a,e,f  

^a UNIVERSITY MEDICAL CENTER MAINZ   (Germany)

^b UNIVERSITY OF REGENSBURG   (Germany)

^c Inst for Hum Genet and Anthropol   (Germany)

^d UNIVERSITY OF HEIDELBERG   (Germany)

^e Laboratory Dres Kapp et al   (Germany)

^f JOHANNES GUTENBERG UNIVERSITY   (Germany)

Author keywords

Aniridia; PAX6 gene; WT1 gene

Indexed keywords

ADOLESCENT; ADULT; ANIRIDIA; ARTICLE; CATARACT; CHILD; CHROMOSOME 11P; CLINICAL ARTICLE; DNA SEQUENCE; FEMALE; GENE AMPLIFICATION; GENE LOCATION; GENE MUTATION; GLAUCOMA; HUMAN; MALE; OPTIC NERVE HYPOPLASIA; PANNUS; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; ANIRIDIA; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; EYE PROTEINS; FEMALE; HOMEODOMAIN PROTEINS; HUMANS; INFANT; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; PAIRED BOX TRANSCRIPTION FACTORS; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; REPRESSOR PROTEINS; TRANSCRIPTION FACTORS;

EID: 0031670391     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1998)12:5<304::AID-HUMU3>3.0.CO;2-D     Document Type: Article

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