Increased rate of missense/in-frame mutations in individuals with NF1-related pulmonary stenosis: a novel genotype–phenotype correlation-Reference-Cited by-同舟云学术

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Increased rate of missense/in-frame mutations in individuals with NF1-related pulmonary stenosis: a novel genotype–phenotype correlation

Published:2012-10-10 Issue:5 Volume:21 Page:535-539
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Ben-Shachar Shay,Constantini Shlomi,Hallevi Hen,Sach Emma K,Upadhyaya Meena,Evans Gareth D,Huson Susan M

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/ejhg2012221.pdf

Reference32 articles.

1. Evans DG, Howard E, Giblin C et al: Birth incidence and prevalence of tumor-prone syndromes: estimates from a UK family genetic register service. Am J Med Genet A 2010; 152A: 327–332.

2. Ferner RE : Neurofibromatosis 1; in Ferner RE, Huson SM, Evans DGR (eds): Neurofibromatoses in Clinical Practice. London: Springer, 2011, pp 1–46.

3. Messiaen LM, Callens T, Mortier G 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 2000; 15: 541–555.

4. Messiaen LM, Wimmer K : NF1 mutation spectrum; in Kaufmann D, (ed.): Neurofibromatoses. Basel: Karger, 2008, pp 63–77.

5. Kluwe L, Siebert R, Gesk S et al: Screening 500 unselected neurofibromatosis 1 patients for deletions of the NF1 gene. Hum Mutat 2004; 23: 111–116.

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