A mutation in the FOXE3 gene causes congenital primary aphakia in an autosomal recessive consanguineous Pakistani family

Molecular Vision

Volumn 16, Issue , 2010, Pages 549-555

  Anjum, Iram ^a,b   Eiberg, Hans ^b   Baig, Shahid Mahmood ^a   Tommerup, Niels ^b   Hansen, Lars ^b  

^a NATIONAL INSTITUTE FOR BIOTECHNOLOGY AND GENETIC ENGINEERING NIBGE   (Pakistan)

^b UNIVERSITY OF COPENHAGEN   (Denmark)

Author keywords

[No Author keywords available]

Indexed keywords

CYSTEINE; FOLKHEAD BOX PROTEIN E3; TRANSCRIPTION FACTOR; UNCLASSIFIED DRUG; FORKHEAD TRANSCRIPTION FACTOR; FOXE3 PROTEIN, HUMAN;

APHAKIA; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHROMOSOME 1P; CLINICAL ARTICLE; CONSANGUINITY; DNA SEQUENCE; FEMALE; GENE LOCUS; GENE MUTATION; GENETIC SCREENING; HOMOZYGOSITY; HUMAN; MADAGASCAR; MALE; MOLECULAR GENETICS; NONSENSE MUTATION; PAKISTAN; PHENOTYPE; POPULATION GENETICS; PRIORITY JOURNAL; RESTRICTION MAPPING; STOP CODON; AMINO ACID SEQUENCE; CATARACT; CHEMISTRY; CHROMOSOME MAP; FAMILY; GENETIC LINKAGE; GENETICS; HAPLOTYPE; HOMOZYGOTE; MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; RECESSIVE GENE;

AMINO ACID SEQUENCE; APHAKIA; BASE SEQUENCE; CATARACT; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; FAMILY; FEMALE; FORKHEAD TRANSCRIPTION FACTORS; GENES, RECESSIVE; GENETIC LOCI; HAPLOTYPES; HOMOZYGOTE; HUMANS; LOD SCORE; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PAKISTAN; PEDIGREE; PHYSICAL CHROMOSOME MAPPING;

EID: 77952295192     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

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