EFTUD2 deficiency in vertebrates: Identification of a novel human mutation and generation of a zebrafish model

Birth Defects Research Part A - Clinical and Molecular Teratology

Volumn 103, Issue 7, 2015, Pages 630-640

  Deml, Brett ^a,b   Reis, Linda M ^a   Muheisen, Sanaa ^a   Bick, David ^a   Semina, Elena V ^a,b  

^a Children's Hospital of Wisconsin   (United States)

^b MEDICAL COLLEGE OF WISCONSIN   (United States)

Author keywords

Coloboma; EFTUD2; Microphthalmia; Retinal dystrophy; Zebrafish

Indexed keywords

ARGININE; ASPARTIC ACID; DNA NUCLEOTIDYLEXOTRANSFERASE; LYSINE; SERINE; EFTUD2 PROTEIN, HUMAN; ELONGATION FACTOR; SMALL NUCLEAR RIBONUCLEOPROTEIN;

ADULT; ALLELE; ANIMAL EXPERIMENT; ANIMAL MODEL; APOPTOSIS; ARTICLE; CASE REPORT; CHILD; COLOBOMA; CONTROLLED STUDY; EFTUD2 GENE; EMBRYO; FEMALE; GENE; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; GENETIC VARIABILITY; HOMOZYGOSITY; HUMAN; MANDIBULOFACIAL DYSOSTOSIS; MANDIBULOFACIAL DYSOSTOSIS GUION ALMEIDA TYPE; MICROCEPHALY; MICROPHTHALMIA; MUTATIONAL ANALYSIS; MYOPIA; NONHUMAN; NYSTAGMUS; OPTIC NERVE ATROPHY; PATHOGENESIS; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; RETINA DYSTROPHY; ZEBRA FISH; ANIMAL; EXOME; EYE MALFORMATION; GENETICS; MUTATION;

ANIMALIA; DANIO RERIO; VERTEBRATA;

ANIMALS; CHILD, PRESCHOOL; EXOME; EYE ABNORMALITIES; FEMALE; HUMANS; MODELS, ANIMAL; MUTATION; PEPTIDE ELONGATION FACTORS; RIBONUCLEOPROTEIN, U5 SMALL NUCLEAR; ZEBRAFISH;

EID: 84937643400     PISSN: 15420752     EISSN: 15420760     Source Type: Journal    
DOI: 10.1002/bdra.23397     Document Type: Article

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