A comprehensive molecular study identified 12 complementation groups with 56 novel FANC gene variants in Indian Fanconi anemia subjects-Reference-Cited by-同舟云学术

A comprehensive molecular study identified 12 complementation groups with 56 novel FANC gene variants in Indian Fanconi anemia subjects

Published:2021-10-05 Issue:12 Volume:42 Page:1648-1665
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

George Merin¹^ORCID,Solanki Avani¹,Chavan Niranjan¹^ORCID,Rajendran Aruna²,Raj Revathi³,Mohan Sheila³,Nemani Sandeep⁴,Kanvinde Shailesh⁵,Munirathnam Deendayalan⁶,Rao Sudha⁷,Radhakrishnan Nita⁸,Lashkari Harsha Prasada⁹^ORCID,Ghildhiyal Radha Gulati¹⁰,Manglani Mamta¹¹,Shanmukhaiah Chandrakala¹²,Bhat Sunil¹³,Ramesh Sowmyashree¹⁴,Cherian Anchu¹⁵,Junagade Pritesh¹⁶,Vundinti Babu Rao¹^ORCID

Affiliation:

1. Department of Cytogenetics, ICMR—National Institute of Immunohematology K.E.M. Hospital Campus Mumbai Maharashtra India

2. Department of Pediatric Hematology Institute of Child Health and Hospital for Children Chennai Tamilnadu India

3. Department of Pediatric Hematology, Oncology Apollo Speciality Hospital Chennai Tamilnadu India

4. Department of Hematology Usha Hematology Center Sangli Maharashtra India

5. Department of Paediatric Hematology Oncology Deenanath Mangeshkar Hospital and Research Center Pune Maharashtra India

6. Department of Pediatric Oncology Kanchi Kamakoti Childs Trust Hospital Chennai Tamil Nadu India

7. Department of Paediatric Haemato‐Oncology and Immunology Bai Jerbai Wadia Hospital for Children Mumbai Maharashtra India

8. Department of Paediatric Haematology Oncology Super Specialty Pediatric Hospital & Post Graduate Teaching Institute Noida Uttar Pradesh India

9. Department of Pediatrics, Kasturba Medical College Manipal Academy of Higher Education Manipal Mangalore India

10. Department of Pediatrics Lokmanya Tilak Municipal General Hospital Mumbai Maharashtra India

11. Department of Hematology Comprehensive Thalassemia Care Center and Bone Marrow Transplantation Center Mumbai Maharashtra India

12. Department of Clinical Hematology King Edward Memorial Hospital Mumbai Maharashtra India

13. Department of Paediatric Haematology, Oncology and Blood & Bone Marrow Transplantation Narayana Health Network Hospitals Bangalore India

14. Department of Pediatrics Vanivilas Hospital Bangalore Karnataka India

15. Department of Pediatrics Jawaharlal Institute of Postgraduate Medical Education and Research Puducherry India

16. Department of stem cell transplantation Lotus Hospital Pune Maharashtra India

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24286

Reference77 articles.

1. Heterogeneous activation of the Fanconi anemia pathway by patient‐derived FANCA mutants;Adachi D.;Human Molecular Genetics,2002

2. Analysis of FANCC gene mutations (IVS4+4A>T, del322G, and R548X)in patients with Fanconi anemia in Pakistan

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

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

5. Clinical and Molecular Characterization of Fanconi Anemia: An Indian Perspective

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