Mutations in MAB21L2 Result in Ocular Coloboma, Microcornea and Cataracts

PLoS Genetics

Volumn 11, Issue 2, 2015, Pages 1-26

  Deml, Brett ^a   Kariminejad, Ariana ^b   Borujerdi, Razieh H R ^c   Muheisen, Sanaa ^a   Reis, Linda M ^a   Semina, Elena V ^a  

^a MEDICAL COLLEGE OF WISCONSIN   (United States)

^b Kariminejad and Najmabadi Pathology and Genetics Center   (Iran)

^c Qom Welfare Organization   (Iran)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ALLELE; ANIMAL CELL; ANIMAL TISSUE; APOPTOSIS; ARTICLE; BONE DYSPLASIA; CAENORHABDITIS ELEGANS; CATARACT; CELL DEATH; CELL PROLIFERATION; COLOBOMA; CONTROLLED STUDY; CORNEA DISEASE; EMBRYO; EXOME; EYE DEVELOPMENT; GENE DELETION; GENE EXPRESSION; GENE FUNCTION; GENE IDENTIFICATION; GENE LOCATION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC MANIPULATION; GENETIC TRANSCRIPTION; GENETIC VARIABILITY; HETEROZYGOSITY; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; IN SITU HYBRIDIZATION; MAJOR CLINICAL STUDY; MALE; MICROCORNEA; NONHUMAN; PEDIGREE; ZEBRA FISH; ANIMAL; EYE MALFORMATION; GENETICS; GROWTH, DEVELOPMENT AND AGING; MUTATION; PATHOLOGY; PHENOTYPE; RETINA; SIBLING;

CAENORHABDITIS ELEGANS; DANIO RERIO;

EYE PROTEIN; HOMEODOMAIN PROTEIN; MAB21L2 PROTEIN, HUMAN; MAB21L2 PROTEIN, ZEBRAFISH; SIGNAL PEPTIDE; ZEBRAFISH PROTEIN;

ALLELES; ANIMALS; CATARACT; COLOBOMA; CORNEAL DISEASES; EXOME; EYE ABNORMALITIES; EYE PROTEINS; HOMEODOMAIN PROTEINS; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MUTATION; PEDIGREE; PHENOTYPE; RETINA; SIBLINGS; ZEBRAFISH; ZEBRAFISH PROTEINS;

EID: 84924350614     PISSN: 15537390     EISSN: 15537404     Source Type: Journal    
DOI: 10.1371/journal.pgen.1005002     Document Type: Article

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