Comprehensive laboratory diagnosis of Fanconi anaemia: comparison of cellular and molecular analysis

BACKGROUND: Fanconi anaemia (FA) is a rare inherited bone marrow failure disease caused by germline pathogenic variants in any of the 22 genes involved in the FA-DNA interstrand crosslink (ICL) repair pathway. Accurate laboratory investigations are required for FA diagnosis for the clinical manageme...

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Detalles Bibliográficos
Autores principales: Joshi, Gaurav, Arthur, Nancy Beryl Janet, Geetha, Thenral S, Datari, Phaneendra Venkateswara Rao, Modak, Kirti, Roy, Debanjan, Chaudhury, Anurag Dutta, Sundaraganesan, Prasanth, Priyanka, Sweety, NA, Fouzia, Ramprasad, Vedam, Abraham, Aby, Srivastava, Vivi M, Srivastava, Alok, Kulkarni, Uday Prakash, George, Biju, Velayudhan, Shaji R
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2023
Materias:
Diagnostics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10423531/
https://www.ncbi.nlm.nih.gov/pubmed/36894310
http://dx.doi.org/10.1136/jmg-2022-108714

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