A molecular analysis of individuals with neurofibromatosis type 1 (NF1) and optic pathway gliomas (OPGs), and an assessment of genotypeephenotype correlations

Journal of Medical Genetics

Volumn 48, Issue 4, 2011, Pages 256-260

  Sharif, Saba ^a   Upadhyaya, Meena ^b   Ferner, Rosalie ^c   Majounie, Elisa ^b   Shenton, Andrew ^d   Baser, Michael ^d   Thakker, Nalin ^d   Evans, D Gareth ^d  

^a West Midlands Regional Genetics Laboratory   (United Kingdom)

^b CARDIFF UNIVERSITY   (United Kingdom)

^c GUY S HOSPITAL   (United Kingdom)

^d ST MARY S HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

GUANOSINE TRIPHOSPHATASE ACTIVATING PROTEIN; NEUROFIBROMIN;

ADOLESCENT; ADULT; ARTICLE; CLINICAL ARTICLE; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; FLUORESCENCE IN SITU HYBRIDIZATION; FOLLOW UP; GENE DELETION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; NEUROFIBROMATOSIS; NEUROLOGICAL COMPLICATION; OPTIC PATHWAY GLIOMA; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; TREATMENT RESPONSE;

ADOLESCENT; ADULT; CASE-CONTROL STUDIES; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; FEMALE; FOLLOW-UP STUDIES; GENETIC ASSOCIATION STUDIES; GENOTYPE; HUMANS; MALE; MUTATION; NEUROFIBROMATOSIS 1; NEUROFIBROMIN 1; OPTIC NERVE GLIOMA; PHENOTYPE; TREATMENT OUTCOME;

EID: 79953686774     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.2010.081760     Document Type: Article

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