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In Silico Analysis Revealed Five Novel High-Risk Single-Nucleotide Polymorphisms (rs200384291, rs201163886, rs193141883, rs201139487, and rs201723157) in ELANE Gene Causing Autosomal Dominant Severe Congenital Neutropenia 1 and Cyclic Hematopoiesis

Single-nucleotide polymorphisms in the ELANE (Elastase, Neutrophil Expressed) gene are associated with severe congenital neutropenia, while the ELANE gene provides instructions for making a protein called neutrophil elastase. We identified disease susceptibility single-nucleotide polymorphisms (SNPs...

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Detalles Bibliográficos
Autores principales: Shinwari, Khyber, Bolkov, Mikhail A., Yasir Akbar, Muhammad, Guojun, Liu, Deryabina, Svetlana S., Tuzankina, Irina A., Chereshnev, Valery. A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9106522/
https://www.ncbi.nlm.nih.gov/pubmed/35571273
http://dx.doi.org/10.1155/2022/3356835