Cargando…
Integrative identification of the pathogenic role of a novel G6PD missense mutation c.697G>C
BACKGROUND: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a hereditary disease caused by pathogenic mutations of G6PD. While most of the pathogenic variants of G6PD have been annotated, hemolysis of unknown etiology but analogous to that in G6PD deficiency persists, implying the existence o...
Autores principales: | Zhang, Hongyang, Peng, Danyi, Shu, Yi, Zhu, Dan, Hu, Weiwei, Yu, Chaowen, Zhang, Juan, Liu, Shan, Wan, Kexing, Yuan, Zhaojian, Liu, Hao, Wang, Dongjuan, Jiang, Tingting, Yu, Jie, Zhang, Penghui, Zou, Lin |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
AME Publishing Company
2021
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7940930/ https://www.ncbi.nlm.nih.gov/pubmed/33708821 http://dx.doi.org/10.21037/atm-20-3941 |
Ejemplares similares
-
PT697. Association between µ-opioid receptor gene variant 118 A>G and personality traits among Japanese population
por: Kubo, Yumiko, et al.
Publicado: (2016) -
Whole Exome Sequencing Leading to the Diagnosis of Dysferlinopathy with a Novel Missense Mutation (c.959G>C)
por: Swaika, Abhisek, et al.
Publicado: (2016) -
Neonatal Hyperbilirubinemia in infants with G6PD c.563C > TVariant
por: Moiz, Bushra, et al.
Publicado: (2012) -
Compound Heterozygous Factor VII Deficiency c.1025G>A p.(Arg342Gln) With Novel Missense Variant c.194C>G p.(Ala65Gly)
por: Gallardo, Christian Aledia, et al.
Publicado: (2022) -
A Novel De Novo Heterozygous ARID1A Missense Variant Cluster in cis c.[5954C>G;6314C>T;6334C>T;6843G>C] causes a Coffin–Siris Syndrome
por: Lee, Cha Gon, et al.
Publicado: (2021)