A recurrent PAX6 mutation is associated with aniridia and congenital progressive cataract in a Chinese family

Molecular Vision

Volumn 18, Issue , 2012, Pages 465-470

  Jin, Chongfei ^a   Wang, Qiwei ^a   Li, Jinyu ^a   Zhu, Yanan ^a   Shentu, Xingchao ^a   Yao, Ke ^a  

^a THE SECOND AFFILIATED HOSPITAL OF ZHEJIANG UNIVERSITY SCHOOL OF MEDICINE   (China)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; CYTOSINE; DNA; THYMINE; TRANSCRIPTION FACTOR PAX6;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ANIRIDIA; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BIOINFORMATICS; CATARACT; CHINESE; CLINICAL ARTICLE; CLINICAL GENETICS; CONGENITAL PROGRESSIVE CATARACT; CONTROLLED STUDY; CORNEA CURVATURE; CORNEA THICKNESS; CORNEA VASCULARIZATION; DNA FLANKING REGION; DNA SEQUENCE; ECHOGRAPHY; ECTOPIA LENTIS; EXON; EYE AXIS LENGTH; FAMILY HISTORY; FEMALE; GENE AMPLIFICATION; GENE MUTATION; GENE PRODUCT; GENE SEGREGATION; GENETIC ASSOCIATION; GENETIC CONSERVATION; GENETIC SCREENING; GENETIC VARIABILITY; GLAUCOMA; HETEROZYGOSITY; HUMAN; HUMAN VERSUS ANIMAL COMPARISON; INTRON; KERATOMETRY; MALE; MATHEMATICAL ANALYSIS; MOLECULAR GENETICS; MUTATIONAL ANALYSIS; NONHUMAN; NUCLEOTIDE SEQUENCE; NYSTAGMUS; OPHTHALMOLOGY; OPTIC DISK; OPTICAL COHERENCE TOMOGRAPHY; PANNUS; PAX6 GENE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROMOTER REGION; PTOSIS; RAT; SEQUENCE ANALYSIS; SLIT LAMP; STOP CODON; STRABISMUS; TONOMETRY; VISUAL ACUITY;

ADULT; ANIRIDIA; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; CATARACT; CHILD; DISEASE PROGRESSION; EXONS; EYE PROTEINS; FEMALE; GENOTYPE; HETEROZYGOTE; HOMEODOMAIN PROTEINS; HUMANS; INTRONS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; PAIRED BOX TRANSCRIPTION FACTORS; PEDIGREE; PHENOTYPE; REPRESSOR PROTEINS; SEQUENCE ANALYSIS, DNA; SEVERITY OF ILLNESS INDEX;

EID: 84863275280     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

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