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Annegret Buske

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13

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753

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Segmental neurofibromatosis is caused by somatic mutation of the neurofibromatosis type 1 ( NF1 ) gene

2000 European Journal of Human Genetics
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Recurrent NF1 gene mutation in a patient with oligosymptomatic neurofibromatosis type 1 (NF1).

1999 American Journal of Medical Genetics
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Two independent mutations in a family with neurofibromatosis type 1 (NF1)

1999 American Journal of Medical Genetics
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Descriptive analysis of tibial pseudarthrosis in patients with neurofibromatosis 1.

1999 American Journal of Medical Genetics
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Two novel mutations in exons 19a and 20 and a BsaI polymorphism in a newly characterized intron of the neurofibromatosis type 1 gene

1998 Human Genetics
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New evidence for a mutation hotspot in exon 37 of the NF1 gene.

1997 Human Mutation
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Recurrent 2‐bp deletion in exon 10c of the NF1 gene in two cases of von Recklinghausen neurofibromatosis

1996 Human Mutation
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Two recurrent nonsense mutations and a 4 bp deletion in a quasi-symmetric element in exon 37 of the NF1 gene

1995 Human Genetics
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Citations (41)