Homozygous PMS2 germline mutations in two families with early-onset haematological malignancy, brain tumours, HNPCC-associated tumours, and signs of neurofibromatosis type 1

European Journal of Human Genetics

Volumn 16, Issue 1, 2008, Pages 62-72

  Krüger, Stefan ^a   Kinzel, Miriam ^b   Walldorf, Constanze ^c   Gottschling, Sven ^d   Bier, Andrea ^a   Tinschert, Sigrid ^a   von Stackelberg, Arend ^b   Henn, Wolfram ^d   Görgens, Heike ^a   Boue, Stephanie ^e   Kölble, Konrad ^b   Büttner, Reinhard ^c   Schackert, Hans K ^a  

^a DRESDEN UNIVERSITY OF TECHNOLOGY   (Germany)

^b HUMBOLDT UNIVERSITY   (Germany)

^c UNIVERSITY OF BONN   (Germany)

^d SAARLAND UNIVERSITY   (Germany)

^e Structural and Computational Biology Unit   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ANTINEOPLASTIC AGENT; FLUOROURACIL; FOLINIC ACID; GLYCINE; ISOLEUCINE; MISMATCH REPAIR PROTEIN PMS2; OXALIPLATIN; RETINOIC ACID; VALINE;

ADOLESCENT; ADULT; AGE DISTRIBUTION; ARTICLE; BRAIN RADIATION; BRAIN SURGERY; BRAIN TUMOR; CAFE AU LAIT SPOT; CANCER COMBINATION CHEMOTHERAPY; CHILD; CLINICAL ARTICLE; COLONOSCOPY; COLORECTAL CANCER; COLORECTAL SURGERY; CONSANGUINITY; FAMILIAL CANCER; FAMILY; FEMALE; FOLLOW UP; GENE MUTATION; GLIOBLASTOMA; HEMATOLOGIC MALIGNANCY; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; LEIOMYOMA; MALE; MISMATCH REPAIR; NEUROFIBROMATOSIS; NONHODGKIN LYMPHOMA; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; PROCTOCOLECTOMY;

ADENOSINE TRIPHOSPHATASES; ADOLESCENT; AGE OF ONSET; BRAIN NEOPLASMS; CHILD; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; CONSANGUINITY; DNA MISMATCH REPAIR; DNA REPAIR ENZYMES; DNA-BINDING PROTEINS; FEMALE; GERM-LINE MUTATION; GERMANY; GLIOBLASTOMA; HEMATOLOGIC NEOPLASMS; HOMOZYGOTE; HUMANS; INFANT; MALE; NEOPLASTIC SYNDROMES, HEREDITARY; NEUROFIBROMATOSIS 1; PEDIGREE; SYNDROME; TURKEY;

EID: 37249079114     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5201923     Document Type: Article

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