Frequency of SMARCB1 mutations in familial and sporadic schwannomatosis

Neurogenetics

Volumn 13, Issue 2, 2012, Pages 141-145

  Smith, Miriam J ^a   Wallace, Andrew J ^a   Bowers, Naomi L ^a   Rustad, Cecilie F ^b   Woods, C Geoff ^c   Leschziner, Guy D ^d   Ferner, Rosalie E ^d   Evans, D Gareth R ^a  

^a UNIVERSITY OF MANCHESTER   (United Kingdom)

^b OSLO UNIVERSITY HOSPITAL   (Norway)

^c UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^d GUY'S AND ST THOMAS' NHS FOUNDATION TRUST   (United Kingdom)

Author keywords

Mutation; NF2; Schwannomatosis; SMARCB1

Indexed keywords

PROTEIN; SMARCB1 PROTEIN; UNCLASSIFIED DRUG;

3' UNTRANSLATED REGION; 5' UNTRANSLATED REGION; ARTICLE; CONTROLLED STUDY; EXON; GENE FREQUENCY; GENE MUTATION; GENETIC SCREENING; HUMAN; INTRON; MAJOR CLINICAL STUDY; MISSENSE MUTATION; NEURILEMOMA; PRIORITY JOURNAL; SPORADIC SCHWANNOMATOSIS;

CHROMOSOMAL PROTEINS, NON-HISTONE; COHORT STUDIES; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; EXONS; GENES, TUMOR SUPPRESSOR; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; HUMANS; MUTATION; NEURILEMMOMA; NEUROFIBROMATOSES; SKIN NEOPLASMS; TRANSCRIPTION FACTORS;

EID: 84862811132     PISSN: 13646745     EISSN: 13646753     Source Type: Journal    
DOI: 10.1007/s10048-012-0319-8     Document Type: Article

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