CFTR Mutations in Turkish and North African Cystic Fibrosis Patients in Europe: Implications for Screening-Reference-Cited by-同舟云学术

CFTR Mutations in Turkish and North African Cystic Fibrosis Patients in Europe: Implications for Screening

Published:2008-03 Issue:1 Volume:12 Page:25-35
ISSN:1090-6576
Container-title:Genetic Testing
language:en
Short-container-title:Genetic Testing

Author:

Lakeman Phillis¹²,Gille Johan J.P.¹,Dankert-Roelse Jeannette E.³,Heijerman Harry G.M.⁴,Munck Anne⁵,Iron Albert⁶,Grasemann Hartmut⁷,Schuster Antje⁸,Cornel Martina C.¹²,ten Kate Leo P.¹

Affiliation:

1. Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands.

2. Department of EMGO Institute, VU University Medical Center, Amsterdam, The Netherlands.

3. Department of Paediatrics, Atrium Medical Center, Heerlen, The Netherlands.

4. Department of Pulmonology, Haga Hospital, The Hague, The Netherlands.

5. Department of Paediatric Gastroenterology and Nutrition, Hôpital Robert Debré, Paris, France.

6. Service de Génétique Médicale, CHU Pellegrin, Bordeaux, France.

7. Paediatric Respiratory Medicine, Hospital for Sick Children, Toronto, Canada.

8. Department of Paediatrics, Heinrich Heine University, Düsseldorf, Germany.

Publisher

Mary Ann Liebert Inc

Subject

Genetics (clinical)

Link

http://www.liebertpub.com/doi/pdf/10.1089/gte.2007.0046

Reference40 articles.

1. Genetic variation in North Africa and Eurasia: Neolithic demic diffusion vs. paleolithic colonisation

2. Relative Contribution of Genetic and Nongenetic Modifiers to Intestinal Obstruction in Cystic Fibrosis

3. Cystic fibrosis: A worldwide analysis ofCFTR mutations?correlation with incidence data and application to screening

4. Phenotypic discordance in three siblings affected by atypical cystic fibrosis with the F508del/D614G genotype

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