The location of constitutional neurofibromatosis 2 (NF2) splice site mutations is associated with the severity of NF2

Journal of Medical Genetics

Volumn 42, Issue 7, 2005, Pages 540-546

  Baser, Michael E ^a   Kuramoto, L ^b   Woods, R ^b   Joe, H ^b   Friedman, J M ^b   Wallace, A J ^c   Ramsden, R T ^d   Olschwang, S ^e   Bijlsma, E ^f   Kalamarides, M ^g   Papi, L ^h   Kato, R ⁱ   Carroll, J ^j   Lazaro C ^k   Joncourt, F ^l   Parry, D M ^m   Rouleau, G A ⁿ   Evans, D G R ^c  

^a University of British Columbia ^*  (United States)

^b UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^c ST MARY S HOSPITAL   (United Kingdom)

^d MANCHESTER ROYAL INFIRMARY   (United Kingdom)

^e FONDATION JEAN DAUSSET CEPH   (France)

^f LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^g BEAUJON HOSPITAL   (France)

^h UNIVERSITY OF FLORENCE   (Italy)

ⁱ Higashisaitama National Hospital   (Japan)

^j INSTITUTE OF MEDICAL AND VETERINARY SCIENCE   (Australia)

^k Deafness Research Group   (Spain)

^l University Children's Hospital   (Switzerland)

^m NATIONAL CANCER INSTITUTE   (United States)

ⁿ MCGILL UNIVERSITY   (Canada)

more..

Author keywords

[No Author keywords available]

Indexed keywords

SODIUM CHLORIDE;

AMINO TERMINAL SEQUENCE; CLINICAL FEATURE; DISEASE SEVERITY; EXON; GENE; GENE LOCATION; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; IN VITRO STUDY; KNOCKOUT MOUSE; MENINGIOMA; NEUROFIBROMATOSIS; NF2 GENE; NONHUMAN; PRIORITY JOURNAL; REGRESSION ANALYSIS; REVIEW; SCHWANN CELL; SPLICEOSOME; TRANSGENIC MOUSE;

ALTERNATIVE SPLICING; ANIMALS; DATABASES, GENETIC; FEMALE; GENOTYPE; HUMANS; MALE; MUTATION; NEUROFIBROMATOSIS 2; NEUROFIBROMIN 2; PHENOTYPE; SEVERITY OF ILLNESS INDEX; SURVIVAL ANALYSIS;

MUS MUSCULUS;

EID: 22244445505     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.2004.029504     Document Type: Review

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