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TY - JOUR AU - Klose, Anja AU - Robinson, Peter Nicholas AU - Gewies, Andreas AU - Kluwe, Lan AU - Kaufmann, Dieter AU - Buske, Annegret AU - Tinschert, Sigrid AU - Peters, H. PY - 1998 DA - 1998/03/01 TI - Two novel mutations in exons 19a and 20 and a BsaI polymorphism in a newly characterized intron of the neurofibromatosis type 1 gene JO - Human Genetics SP - 367 EP - 371 VL - 102 IS - 3 AB - Neurofibromatosis type 1 (NF1) is a common autosomal dominant disorder. It is caused by mutations in the NF1 gene, which comprises 60 exons and is located on chromosome 17q11.2. A total of 170 unrelated NF1 patients were screened for mutations in four exons by temperature-gradient gel electrophoresis. Preparatory work revealed the presence of a previously uncharacterized intron (19a) in what was previously designated exon 19; this allowed us to develop assays for genomic mutation screening in the newly defined exons 19a and 19b. Two novel NF1 mutations were detected: a single-base insertion in exon 19a creating a frameshift, and a second mutation affecting the splice donor site of intron 20 and leading to skipping of exon 20. A novel BsaBI polymorphism was identified in intron 19a. SN - 1432-1203 UR - https://doi.org/10.1007/s004390050706 DO - 10.1007/s004390050706 ID - Klose1998 ER -