High frequency of exon 15 deletion in the FANCA gene in T unisian patients affected with F anconi anemia disease: implication for diagnosis-Reference-Cited by-同舟云学术

High frequency of exon 15 deletion in the FANCA gene in T unisian patients affected with F anconi anemia disease: implication for diagnosis

Published:2014-02-05 Issue:2 Volume:2 Page:160-165
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Amouri Ahlem¹²,Talmoudi Faten¹²,Messaoud Olfa²,d'Enghien Catherine D.³,Rekaya Mariem B.²,Allegui Ines²,Azaiez Héla²,Kefi Rym²,Abdelhak Ahlem²,Meseddi Sondes H.⁴,Torjemane Lamia⁵,Ouederni Monia⁶,Mellouli Fethi⁶,Abid Héla B.⁷,Aissaoui Lamia⁷,Bejaoui Mohamed⁶,Othmen Tarek B.⁵,Lyonnet Dominique S.³⁸⁹,Soulier Jean¹⁰,Hachicha Mongia¹¹,Dellagi Koussay¹²,Abdelhak Sonia²,

Affiliation:

1. Department of Histology and Cytogenetics Institut Pasteur de Tunis Tunis Tunisia

2. Laboratory of Biomedical Genomics and Oncogenetics Institut Pasteur de Tunis Tunis El Manar University Tunis Tunisia

3. Department of Tumour Biology Institut Curie Paris France

4. Haematology Department Hedi Chaker Hospital University of Sfax Sfax Tunisia

5. Department of Haematology and Transplantation National Bone Marrow Transplantation Centre Tunis Tunisia

6. Department of Peadiatric Immuno‐Haematology National Bone Marrow Transplantation Tunis Tunisia

7. Haematology Department Aziza Othmana Hospital Tunis Tunisia

8. Institut Curie INSERM U830 Paris France

9. Sorbonne Paris Cité, Université Paris Descartes Paris France

10. Hôpital Saint‐Louis Paris France

11. Department of Pediatrics CHU Hedi Chaker Sfax Tunisia

12. Laboratory of Transmission, Immunology and Infection Control Institut Pasteur de Tunis Tunis Tunisia

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.55

Reference18 articles.

1. Identical Glycine Substitution Mutations in Type VII Collagen May Underlie Both Dominant and Recessive Forms of Dystrophic Epidermolysis Bullosa

2. Diagnosis of Fanconi Anemia by Diepoxybutane Analysis

3. Fanconi anemia in Tunisia: high prevalence of group A and identification of new FANCA mutations

4. A common founder mutation in FANCA underlies the world's highest prevalence of Fanconi anemia in Gypsy families from Spain

Cited by 8 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. FANCA c.3624C>T (p.Ser1208=) is a hypomorphic splice variant associated with delayed onset of Fanconi anemia;Blood Advances;2024-02-15

2. Comprehensive laboratory diagnosis of Fanconi anaemia: comparison of cellular and molecular analysis;Journal of Medical Genetics;2023-03-09

3. FANCA Gene Mutations in North African Fanconi Anemia Patients;Frontiers in Genetics;2021-02-19

4. Clinical, cytogenetic and molecular findings in nine Moroccan patients with Fanconi anemia;Pan African Medical Journal;2021

5. Cytogenetic and molecular diagnosis of Fanconi anemia revealed two hidden phenotypes: Disorder of sex development and cerebro‐oculo‐facio‐skeletal syndrome;Molecular Genetics & Genomic Medicine;2019-05-23