Detection and Gene Mutation Analysis of Three Variations in Two Unrelated Chinese Hereditary Coagulation Factor XI Deficiency Families
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DOI: 10.1159/000526043
Abstract: Introduction: Three variations including a novel F11 gene variation were detected in two unrelated Chinese families with coagulation factor XI deficiency, and their possible pathogenesis was elucidated. Methods: The genomic DNA of the probands’ pedigrees… read more here.
Keywords: three variations; two unrelated; unrelated chinese; coagulation factor ... See more keywords
Clinical characteristics and spectrum of NF1 mutations in 12 unrelated Chinese families with neurofibromatosis type 1
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DOI: 10.1186/s12881-018-0615-8
Abstract: BackgroundNeurofibromatosis type 1 (NF1) is a common autosomal dominant disorder caused by a heterozygous germline mutation in the tumor suppressor gene NF1. Because of the existence of highly homologous pseudogenes, the large size of the… read more here.
Keywords: nf1 mutations; spectrum nf1; mutations identified; unrelated chinese ... See more keywords
Genotype–Phenotype Correlation Analysis and Identification of a Novel SRD5A2 Mutation in Four Unrelated Chinese Patients with 5α-Reductase Deficiency
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DOI: 10.2147/ijgm.s377675
Abstract: Objective The 5α-reductase type 2 deficiency is mainly caused by mutations in the SRD5A2 gene. Our study aims to investigate the SRD5A2 gene mutations and their corresponding manifestations. Methods Four unrelated Chinese patients with 46,… read more here.
Keywords: unrelated chinese; srd5a2 gene; four unrelated; mutation ... See more keywords