NF1 single and multi-exons copy number variations in neurofibromatosis type 1-Reference-Cited by-同舟云学术

NF1 single and multi-exons copy number variations in neurofibromatosis type 1

Published:2015-01-29 Issue:4 Volume:60 Page:221-224
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Imbard Apolline, ,Pasmant Eric,Sabbagh Audrey,Luscan Armelle,Soares Magali,Goussard Philippe,Blanché Hélène,Laurendeau Ingrid,Ferkal Salah,Vidaud Michel,Pinson Stéphane,Bellanne-Chantelot Christine,Vidaud Dominique,Wolkenstein Pierre,Parfait Béatrice

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/jhg20156.pdf

Reference23 articles.

1. Carey, J. C ., Baty, B. J ., Johnson, J. P ., Morrison, T ., Skolnick, M . & Kivlin, J . The genetic aspects of neurofibromatosis. Ann. NY Acad. Sci. 486, 45–56 (1986).

2. Fahsold, R ., Hoffmeyer, S ., Mischung, C ., Gille, C ., Ehlers, C ., Kücükceylan, N . et al. 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. Am. J. Hum. Genet. 66, 790–818 (2000).

3. Messiaen, L. M ., Callens, T ., Mortier, G ., Beysen, D ., Vandenbroucke, I ., Van Roy, N . et al. Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects. Hum. Mutat. 15, 541–555 (2000).

4. Ars, E ., Kruyer, H ., Morell, M ., Pros, E ., Serra, E ., Ravella, A . et al. Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients. J. Med. Genet. 40, e82 (2003).

5. Mattocks, C ., Baralle, D ., Tarpey, P ., ffrench-Constant, C ., Bobrow, M . & Whittaker, J . Automated comparative sequence analysis identifies mutations in 89% of NF1 patients and confirms a mutation cluster in exons 11-17 distinct from the GAP related domain. J. Med. Genet. 41, e48 (2004).

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