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The Clinical and Molecular Assessment of Iranian Families with Severe Congenital Neutropenia, Identification of HYOU1 and SHOC2 as Potential Novel Gene Defects
This study was conducted to genetically screen six Iranian families with SCN who have at least one affected person. In the first step, all exons and intron boundaries of ELANE and HAX1 genes were sequenced in probands. Cases with no pathogenic mutations were tested through whole-exome sequencing (WES). Analysis showed five different variants in ELANE (c.377 C>T), HAX1 (c.130_131 insA), HYOU1 (c.69 G>C and c.2744 G>A) and SHOC2 (c.4 A>G) genes in four families. We found that two out of six families had mutations in ELANE and HAX1 genes. Moreover, we found two novel mutations at the HYOU1 gene that had not previo...
Source: Iranian Journal of Allergy, Asthma and Immunology - July 13, 2022 Category: Allergy & Immunology Authors: Fatemeh Arab Nima Rezaei Forough Taheri Hamideh Kouhpeikar Elham Rayzan Mona Mirbeyk Davood Zare-Abdollahi Mohsen Ghadami Source Type: research
