Delineation of the Clinical, Molecular and Cellular Aspects of Novel JAM3 Mutations Underlying the Autosomal Recessive Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Congenital Cataracts

Human Mutation

Volumn 34, Issue 3, 2013, Pages 498-505

  Akawi, Nadia A ^a   Canpolat, Fuat E ^b   White, Susan M ^c,d   Quilis Esquerra, Josep ^e   Morales Sanchez, Martin ^e   Gamundi, Maria José ^e   Mochida, Ganeshwaran H ^f   Walsh, Christopher A ^f   Ali, Bassam R ^a   Al Gazali, Lihadh ^a  

^a UNITED ARAB EMIRATES UNIVERSITY   (United Arab Emirates)

^b Zekai Tahir Burak Maternity Hospital   (Turkey)

^c MURDOCH CHILDREN'S RESEARCH INSTITUTE   (Australia)

^d UNIVERSITY OF MELBOURNE   (Australia)

^e Molecular Genetics Unit   (Spain)

^f BOSTON CHILDREN S HOSPITAL   (United States)

Author keywords

Brain; Congenital cataract; JAM3; Subependymal calcification

Indexed keywords

JUNCTIONAL ADHESION MOLECULE C;

ARTICLE; BRAIN CALCIFICATION; BRAIN HEMORRHAGE; CELL MEMBRANE; CONGENITAL CATARACT; CONTROLLED STUDY; DEATH; EXON; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC CODE; HUMAN; HUMAN CELL; PHENOTYPE; PRIORITY JOURNAL; PROTEIN SYNTHESIS; SUBEPENDYMAL CALCIFICATION;

AUSTRALIA; BRAIN; CALCINOSIS; CATARACT; CELL ADHESION MOLECULES; CEREBRAL HEMORRHAGE; EXONS; FEMALE; HELA CELLS; HOMOZYGOTE; HUMANS; INFANT, NEWBORN; INTENSIVE CARE UNITS, NEONATAL; MALE; MICROSCOPY, CONFOCAL; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; SEQUENCE ANALYSIS, DNA; SPAIN; TURKEY; UNITED ARAB EMIRATES;

EID: 84873968168     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22263     Document Type: Article

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