A founder variant in the South Asian population leads to a high prevalence of FANCL Fanconi anemia cases in India-Reference-Cited by-同舟云学术

A founder variant in the South Asian population leads to a high prevalence of FANCL Fanconi anemia cases in India

Published:2019-09-26 Issue:1 Volume:41 Page:122-128
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Donovan Frank X.¹^ORCID,Solanki Avani²,Mori Minako³⁴^ORCID,Chavan Niranjan²,George Merin²,C Selvaa Kumar⁵,Okuno Yusuke⁶,Muramastsu Hideki⁷,Yoshida Kenichi⁸,Shimamoto Akira⁹,Takaori‐Kondo Akifumi⁴,Yabe Hiromasa¹⁰,Ogawa Seishi⁸,Kojima Seiji⁷,Yabe Miharu¹⁰,Ramanagoudr‐Bhojappa Ramanagouda¹^ORCID,Smogorzewska Agata¹¹^ORCID,Mohan Sheila¹²,Rajendran Aruna¹³,Auerbach Arleen D.¹⁴^ORCID,Takata Minoru³^ORCID,Chandrasekharappa Settara C.¹^ORCID,Vundinti Babu Rao²

Affiliation:

1. Cancer Genomics Unit, Cancer Genetics and Comparative Genomics Branch, National Human Genome Research InstituteNational Institutes of Health Bethesda Maryland

2. Department of CytogeneticsNational Institute of Immunohaematology (ICMR) Mumbai Maharashtra India

3. Laboratory of DNA Damage Signaling, Department of Late Effects Studies, Radiation Biology Centre, Graduate School of BiostudiesKyoto University Kyoto Japan

4. Department of Hematology and Oncology, Graduate School of MedicineKyoto University Kyoto Japan

5. School of Biotechnology and BioinformaticsLevel 6, D.Y. Patil Deemed to be University Navi Mumbai Maharashtra India

6. Center for Advanced Medicine and Clinical ResearchNagoya University Hospital Nagoya Japan

7. Department of PediatricsNagoya University Graduate School of Medicine Nagoya Japan

8. Department of Pathology and Tumor Biology, Graduate School of MedicineKyoto University Kyoto Japan

9. Department of Regenerative Medicine Research, Faculty of Pharmaceutical SciencesSanyo‐Onoda City University Sanyo Onoda Yamaguchi Japan

10. Department of Innovative Medical ScienceTokai University School of Medicine Isehara Kanagawa Japan

11. Laboratory of Genome MaintenanceThe Rockefeller University New York New York

12. Apollo Specialty Hospital Chennai India

13. Department of Pediatric HematologyInstitute of Child Health and Hospital for Children Chennai India

14. Human Genetics and Hematology ProgramThe Rockefeller University New York New York

Funder

National Institutes of Health

Japan Society for the Promotion of Science

Science and Engineering Research Board

National Center for Advancing Translational Sciences

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.23914

Reference31 articles.

1. Identification and characterization of mutations in FANCL gene: A second case of Fanconi anemia belonging to FA-L complementation group

2. VACTERL‐H association and Fanconi anemia;Alter B. P.;Molecular Syndromology,2013

3. Diagnosis of Fanconi Anemia: Mutation Analysis by Next-Generation Sequencing

4. Fanconi anemia and its diagnosis

5. Spectrum of sequence variation in theFANCG gene: An International Fanconi Anemia Registry (IFAR) study

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