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Clinical findings and mutation analysis of NF1 patients in Turkey

  • Published:2018-02 Issue: Volume:15 Page:80-83
  • ISSN:2214-5400
  • Container-title:Meta Gene
  • language:en
  • Short-container-title:Meta Gene

Author:

Terzi Yunus Kasım,Oğuzkan-Balcı Sibel,Anlar Banu,Varan Ali,Ersoy-Evans Sibel,Sharafi Parisa,Ayter Şükriye

Funder

Hacettepe University Scientific Research and Development Office

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference25 articles.

1. Neurofibromatosis. Conference statement. National institutes of health consensus development conference;Anon;Arch. Neurol.,1988

2. Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients;Ars;J. Med. Genet.,2003

3. Gene symbol: NF1. Disease: neurofibromatosis 1;Ayter;Hum. Genet.,2006

4. Use of the national institutes of health criteria for diagnosis of neurofibromatosis 1 in children;DeBella;Pediatrics,2000

5. Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain;Fahsold;Am. J. Hum. Genet.,2000
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