Xiaofeng Wei

Guangzhou, 510515, China

Last Updated: 09/26/2026

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Found 27 publications

Correction: Investigating genotype-phenotype correlation of limb-girdle muscular dystrophy R8: association of clinical severity, protein biological function and protein oligomerization.

Correction: Investigating genotype-phenotype correlation of limb-girdle muscular dystrophy R8: association of clinical severity, protein biological function and protein oligomerization.

Journal: Acta neuropathologica communications

Published: May 06, 2025

Investigating genotype-phenotype correlation of limb-girdle muscular dystrophy R8: association of clinical severity, protein biological function and protein oligomerization.

Investigating genotype-phenotype correlation of limb-girdle muscular dystrophy R8: association of clinical severity, protein biological function and protein oligomerization.

Journal: Acta neuropathologica communications

Published: October 10, 2024

Loss-of-function SLC25A20 variant causes carnitine-acylcarnitine translocase deficiency by reducing SLC25A20 protein stability.

Loss-of-function SLC25A20 variant causes carnitine-acylcarnitine translocase deficiency by reducing SLC25A20 protein stability.

Journal: Gene

Published: September 08, 2024

SNPscan Combined With CNVplex as a High-Performance Diagnostic Method for Thalassemia.

SNPscan Combined With CNVplex as a High-Performance Diagnostic Method for Thalassemia.

Journal: Prenatal diagnosis

Published: March 28, 2024

SUPT5H mutations associated with elevation of Hb A2 level: Identification of two novel variants and literature review.

SUPT5H mutations associated with elevation of Hb A2 level: Identification of two novel variants and literature review.

Journal: Gene

Published: December 19, 2023

Precise diagnosis of a hereditary spherocytosis patient with complicated hematological phenotype.

Precise diagnosis of a hereditary spherocytosis patient with complicated hematological phenotype.

Journal: Molecular genetics and genomics : MGG

Published: November 22, 2023

A novel gain-of-function PIP4K2A mutation elevates the expression of β-globin and aggravates the severity of α-thalassemia.

A novel gain-of-function PIP4K2A mutation elevates the expression of β-globin and aggravates the severity of α-thalassemia.

Journal: British journal of haematology

Published: March 22, 2023

An unusual case of thalassemia intermedia with inheritable complex repeats detected by single-molecule optical mapping.

An unusual case of thalassemia intermedia with inheritable complex repeats detected by single-molecule optical mapping.

Journal: Haematologica

Published: February 09, 2023

Identification of haemolytic anaemia caused by glucose phosphate isomerase deficiency in a thalassaemia-endemic region: Correction of misdiagnosis and consideration of the cause of misdiagnosis.

Identification of haemolytic anaemia caused by glucose phosphate isomerase deficiency in a thalassaemia-endemic region: Correction of misdiagnosis and consideration of the cause of misdiagnosis.

Journal: British journal of haematology

Published: August 16, 2022

A novel splicing mutation of ANK1 is associated with phenotypic heterogeneity of hereditary spherocytosis in a Chinese family.

A novel splicing mutation of ANK1 is associated with phenotypic heterogeneity of hereditary spherocytosis in a Chinese family.

Journal: Biochimica et biophysica acta. Molecular basis of disease

Published: June 19, 2022

Investigation of the mechanism of copy number variations involving the α-globin gene cluster on chromosome 16: two case reports and literature review.

Investigation of the mechanism of copy number variations involving the α-globin gene cluster on chromosome 16: two case reports and literature review.

Journal: Molecular genetics and genomics : MGG

Published: May 14, 2022

TEA domain transcription factor 4 modulates repression of fetal haemoglobin by direct binding to the γ-globin gene promoters.

TEA domain transcription factor 4 modulates repression of fetal haemoglobin by direct binding to the γ-globin gene promoters.

Journal: British journal of haematology

Published: May 18, 2021

Showing 1-12 of 27

Last Updated: 09/26/2026