Xiang-min Xu

Avenue North1838
Guangzhou, China

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 17 publications

A Novel Hemoglobin Variant Hb Liaobu [α107(G14)Val→Leu, HBA2: c.322G>C] Detected by Matrix-Assisted Laser Desorption Ionization-Time-of-Flight Mass Spectrometry.

A Novel Hemoglobin Variant Hb Liaobu [α107(G14)Val→Leu, HBA2: c.322G>C] Detected by Matrix-Assisted Laser Desorption Ionization-Time-of-Flight Mass Spectrometry.

Journal: Hemoglobin

Published: March 24, 2022

Mutations in C1orf194, encoding a calcium regulator, cause dominant Charcot-Marie-Tooth disease.

Mutations in C1orf194, encoding a calcium regulator, cause dominant Charcot-Marie-Tooth disease.

Journal: Brain : a journal of neurology

Published: December 07, 2018

Analysis of variants in upstream open reading frames of human globin-related genes.

Analysis of variants in upstream open reading frames of human globin-related genes.

Journal: Yi chuan = Hereditas

Published: April 20, 2017

Evaluation and comparison of three assays for molecular detection of spinal muscular atrophy.

Evaluation and comparison of three assays for molecular detection of spinal muscular atrophy.

Journal: Clinical chemistry and laboratory medicine

Published: April 05, 2016

Development of a capillary zone electrophoresis method for rapid determination of human globin chains in α and β-thalassemia subjects.

Development of a capillary zone electrophoresis method for rapid determination of human globin chains in α and β-thalassemia subjects.

Journal: Blood cells, molecules & diseases

Published: January 20, 2015

Molecular characterization and copy number of SMN1, SMN2 and NAIP in Chinese patients with spinal muscular atrophy and unrelated healthy controls.

Molecular characterization and copy number of SMN1, SMN2 and NAIP in Chinese patients with spinal muscular atrophy and unrelated healthy controls.

Journal: BMC musculoskeletal disorders

Published: August 22, 2014

DNA hypermethylation and X chromosome inactivation are major determinants of phenotypic variation in women heterozygous for G6PD mutations.

DNA hypermethylation and X chromosome inactivation are major determinants of phenotypic variation in women heterozygous for G6PD mutations.

Journal: Blood cells, molecules & diseases

Published: May 19, 2014

Analysis of clinical phenotypes of compound heterozygotes of Hb J-Bangkok and β-thalassemia

Analysis of clinical phenotypes of compound heterozygotes of Hb J-Bangkok and β-thalassemia

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

Published: April 10, 2013

Analysis of hematological characteristics on the 79 co-inheritance of α-thalassemia and β-thalassemia carriers in Guangxi

Analysis of hematological characteristics on the 79 co-inheritance of α-thalassemia and β-thalassemia carriers in Guangxi

Journal: Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi

Published: February 07, 2013

A novel fusion gene and a common α(0)-thalassemia deletion cause hemoglobin H disease in a Chinese family.

A novel fusion gene and a common α(0)-thalassemia deletion cause hemoglobin H disease in a Chinese family.

Journal: Blood cells, molecules & diseases

Published: December 31, 2012

Evidence of recent natural selection on the Southeast Asian deletion (--(SEA)) causing α-thalassemia in South China.

Evidence of recent natural selection on the Southeast Asian deletion (--(SEA)) causing α-thalassemia in South China.

Journal: BMC evolutionary biology

Published: September 25, 2012

A novel COL7A1 gene mutation causing pretibial epidermolysis bullosa: report of a Chinese family with intra-familial phenotypical diversity.

A novel COL7A1 gene mutation causing pretibial epidermolysis bullosa: report of a Chinese family with intra-familial phenotypical diversity.

Journal: Gene

Published: September 19, 2012

Showing 1-12 of 17

Last Updated: 09/26/2026