A patient severely affected by spinal neurofibromas carries a recurrent splice site mutation in the NF1 gene

European Journal of Human Genetics

Volumn 10, Issue 5, 2002, Pages 334-338

  Wimmer, Katharina ^a   Mühlbauer, Manfred ^b   Eckart, Markus ^a   Callens, Tom ^c   Rehder, Helga ^a   Birkner, Thomas ^b   Leroy, Jules G ^c   Fonatsch, Christa ^a   Messiaen, Ludwine ^c  

^a UNIVERSITY OF VIENNA   (Austria)

^b DANUBE HOSPITAL   (Austria)

^c GHENT UNIVERSITY HOSPITAL   (Belgium)

Author keywords

Genotype phenotype correlation; Mutation; Neurofibromatosis type 1; Spinal neurofibromatosis

Indexed keywords

NEUROFIBROMIN;

ADULT; ARTICLE; CASE REPORT; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE SEVERITY; FAMILIAL SPINAL NEUROFIBROMATOSIS; FEMALE; GENE EXPRESSION; GENE MUTATION; GENETIC ASSOCIATION; HUMAN; HYPOTHESIS; LINKAGE ANALYSIS; NEUROFIBROMA; NEUROFIBROMATOSIS; PHENOTYPIC VARIATION; PRIORITY JOURNAL; SYMPTOMATOLOGY;

ADULT; FEMALE; HUMANS; MUTATION; NEUROFIBROMATOSIS 1; RNA SPLICE SITES; SPINAL CORD NEOPLASMS; SPINAL NERVE ROOTS;

EID: 0036065262     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200807     Document Type: Article

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