Identification of ALK germline mutation (3605delG) in pediatric anaplastic medulloblastoma

Journal of Human Genetics

Volumn 57, Issue 10, 2012, Pages 682-684

  Coco, Simona ^a   De Mariano, Marilena ^a   Valdora, Francesca ^b   Servidei, Tiziana ^c   Ridola, Vita ^c   Andolfo, Immacolata ^d   Oberthuer, André ^e   Tonini, Gian Paolo ^a   Longo, Luca ^a  

^a UNIVERSITY OF GENOA   (Italy)

^b UNIVERSITY OF GENOA   (Italy)

^c CATHOLIC UNIVERSITY   (Italy)

^d CEINGE BIOTECNOLOGIE AVANZATE   (Italy)

^e UNIVERSITY HOSPITAL OF COLOGNE   (Germany)

Author keywords

ALK; gene expression; germline mutation; medulloblastoma

Indexed keywords

ANAPLASTIC LYMPHOMA KINASE; GENOMIC DNA; MESSENGER RNA; PROTEIN TYROSINE KINASE;

ADOLESCENT; ANAPLASTIC CARCINOMA; ARTICLE; CANCER CELL CULTURE; CHILD; COHORT ANALYSIS; CONTROLLED STUDY; EXON; FRAMESHIFT MUTATION; GENE DELETION; GENE MUTATION; GENE OVEREXPRESSION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC IDENTIFICATION; GENETIC SCREENING; HETEROZYGOSITY; HUMAN; HUMAN CELL; INFANT; LYMPHOCYTE; MAJOR CLINICAL STUDY; MEDULLOBLASTOMA; MUTATIONAL ANALYSIS; NONSENSE MUTATION; PEDIATRIC ANAPLASTIC MEDULLOBLASTOMA; PRESCHOOL CHILD; PROTEIN DOMAIN; QUANTITATIVE ANALYSIS; SCHOOL CHILD; SIGNAL TRANSDUCTION; STOP CODON;

ADOLESCENT; ANAPLASIA; CHILD; CHILD, PRESCHOOL; CODON, TERMINATOR; DNA MUTATIONAL ANALYSIS; EARLY DETECTION OF CANCER; ENZYME ACTIVATION; EXONS; FRAMESHIFT MUTATION; GENE EXPRESSION REGULATION, DEVELOPMENTAL; GENE EXPRESSION REGULATION, NEOPLASTIC; GERM-LINE MUTATION; HUMANS; INFANT; MEDULLOBLASTOMA; RECEPTOR PROTEIN-TYROSINE KINASES; RNA, MESSENGER;

EID: 84868144652     PISSN: 14345161     EISSN: 1435232X     Source Type: Journal    
DOI: 10.1038/jhg.2012.87     Document Type: Article

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