No correlation between NF1 mutation position and risk of optic pathway glioma in 77 unrelated NF1 patients

Human Genetics

Volumn 135, Issue 5, 2016, Pages 469-475

  Hutter, Sonja ^a   Piro, Rosario M ^a,b,c   Waszak, Sebastian M ^d   Kehrer Sawatzki, Hildegard ^e   Friedrich, Reinhard E ^f   Lassaletta, Alvaro ^g   Witt, Olaf ^a,h   Korbel, Jan O ^d   Lichter, Peter ^a   Schuhmann, Martin U ^a,i,j   Pfister, Stefan M ^a,h   Tabori, Uri ^g   Mautner, Victor F ^f   Jones, David T W ^a  

^a GERMAN CANCER RESEARCH CENTER DKFZ   (Germany)

^b FREIE UNIVERSITÄT BERLIN   (Germany)

^c CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^d EUROPEAN MOLECULAR BIOLOGY LABORATORY   (Germany)

^e UNIVERSITY OF ULM   (Germany)

^f UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^g HOSPITAL FOR SICK CHILDREN   (Canada)

^h UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

ⁱ UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

^j Centre for Neurofibromatosis   (Germany)

more..

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; NEUROFIBROMIN;

ARTICLE; CANCER RISK; CHILD; CONTROLLED STUDY; COPY NUMBER VARIATION; CORRELATION ANALYSIS; EXOME; FRAMESHIFT MUTATION; GENE DELETION; GENE INSERTION; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC RISK; GENOTYPE PHENOTYPE CORRELATION; GERMLINE MUTATION; HUMAN; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NONSENSE MUTATION; OPTIC NERVE GLIOMA; POINT MUTATION; PRIORITY JOURNAL; RISK ASSESSMENT; SCHOOL CHILD; SPLICING DEFECT; TUMOR SUPPRESSOR GENE; WHOLE EXOME SEQUENCING; CASE CONTROL STUDY; COHORT ANALYSIS; COMPARATIVE STUDY; COMPLICATION; FEMALE; FOLLOW UP; GENETIC ASSOCIATION STUDY; GENETICS; MALE; MUTATION; NEUROFIBROMATOSIS TYPE 1; PROGNOSIS; RISK FACTOR;

CASE-CONTROL STUDIES; CHILD; COHORT STUDIES; EXOME; FEMALE; FOLLOW-UP STUDIES; GENETIC ASSOCIATION STUDIES; HUMANS; MALE; MUTATION; NEUROFIBROMATOSIS 1; NEUROFIBROMIN 1; OPTIC NERVE GLIOMA; PROGNOSIS; RISK FACTORS;

EID: 84960455779     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: 10.1007/s00439-016-1646-x     Document Type: Article

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