Mutational spectrum of NF1 gene in 24 unrelated Egyptian families with neurofibromatosis type 1-Reference-Cited by-同舟云学术

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Mutational spectrum of NF1 gene in 24 unrelated Egyptian families with neurofibromatosis type 1

Published:2021-06-03 Issue:12 Volume:9 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Molec Gen & Gen Med

Author:

Abdel‐Aziz Nahla¹,El‐Kamah Ghada²,Khairat Rabab¹,Mohamed Hanan³,Gad Yehia¹,El‐Ghor Akmal M.³,Amr Khalda S.¹^ORCID

Affiliation:

1. Medical Molecular Genetics Department Human Genetics and Genome Research DivisionNational Research Centre Cairo Egypt

2. Clinical Genetics Department Human Genetics and Genome Research DivisionNational Research Centre Cairo Egypt

3. Zoology Department Faculty of Science Cairo University Cairo Egypt

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1631

Reference72 articles.

1. Neurofibromin in neurofibromatosis type 1‐mutations in NF1gene as a cause of disease;Abramowicz A.;Developmental Period Medicine,2014

2. A method and server for predicting damaging missense mutations

3. A conserved alternative splice in the von Recklinghausen neurofibromatosis (NF1) gene produces two neurofibromin isoforms, both of which have GTPase-activating protein activity.

4. Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1

5. Neurofibromin interacts with the cytoplasmic Dynein Heavy Chain 1 in melanosomes of human melanocytes

Cited by 9 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. Diagnosis and management of neurofibromatosis type 1 in Arabian Gulf Cooperation Council Region: challenges and recommendations;Frontiers in Oncology;2024-08-27

2. Mutation analysis and clinical profile of South African patients with Neurofibromatosis type 1 (NF1) phenotype;Frontiers in Genetics;2024-03-26

3. A feasible molecular diagnostic strategy for rare genetic disorders within resource-constrained environments;Journal of Community Genetics;2023-10-10

4. Mutational Spectrum and Genotype-phenotype Correlations in Neurofibromatosis Type 1 Patients from North Macedonia: Identification of Ten Novel NF1 Pathogenic Variants;Balkan Medical Journal;2023-07-12

5. Phenotype and Genotype of Saudi Pediatric Patients With Neurofibromatosis Type 1: A Seven-Year Multicenter Experience From Saudi Arabia;Cureus;2023-04-10

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