Characterisation of germline mutations in the neurofibromatosis type 1 (NF1) gene.

Author:

Upadhyaya M,Maynard J,Osborn M,Huson S M,Ponder M,Ponder B A,Harper P S

Publisher

BMJ

Subject

Genetics (clinical),Genetics

Reference21 articles.

1. A genetic study of von Recklinghausen neurofibromatosis in south east Wales. I Prevalence, fimness, mutation rate, and effect of paternal transmission on severity;Huson, S.M.; Compton, D.A.S.; Clark, P.; Harper, P.S.;Med Genet,1989

2. Gene for von Recklinghausen neurofibromatosis is in the pericentric region of chromosome 17;Barker, D.; Wright, E.; Nguyen, K.; et aL;Science,1987

3. Genetic linkage of von Recklinghausen neurofibromatosis to the nerve growth factor receptor gene;Seizinger, B.R.; Rouleau, G.A.; Ozelius, Z.; et aL;Cel,1987

4. Type neurofibroratosis gene: identification of a large transcript disrupted in three NFl patients;Wallace, M.R.; Marchuk, D.A.; Andersen, L.B.;Science,1990

5. Deletion a translocation interrupt a cloned gene at neurofibromatosis type locus;Viskochil, D.H.; Buchberg, A.M.; Xu, G.; et aL;Cell,1990

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