Yu-wei Jin

发表

Two unrelated patients with rare Crigler-Najjar syndrome type I: two novel mutations and a patient with loss of heterozygosity of UGT1A1 gene

Y. Qu, Hong Wang, J. Bai, 2014, Journal of Zhejiang University SCIENCE B.

X-linked ichthyosis and Crigler-Najjar syndrome I: Coexistence in a male patient with two copy number variable regions of 2q37.1 and Xp22.3

Y. Qu, Hong Wang, J. Bai, 2015, Molecular medicine reports.

p.Val19Glyfs*21 and p.Leu228* variants in the survival of motor neuron 1 trigger nonsense-mediated mRNA decay causing the SMN1 PTC+ transcripts degradation.

Yu-wei Jin, Y. Qu, Hong Wang, 2017, Mutation research.

Dual Mechanism of a New SMN1 Variant (c.835G>C, p.Gly279Arg) by Interrupting Exon 7 Skipping and YG Oligomerization in Causation of Spinal Muscular Atrophy

Y. Qu, Hong Wang, J. Bai, 2020, Journal of Molecular Neuroscience.

Dual Mechanism of a New SMN1 Variant (c.835G>C, p.Gly279Arg) by Interrupting Exon 7 Skipping and YG Oligomerization in Causation of Spinal Muscular Atrophy

Yu-wei Jin, Y. Qu, Hong Wang, 2020, Journal of Molecular Neuroscience.

A rare variant (c.863G>T) in exon 7 of SMN1 disrupts mRNA splicing and is responsible for spinal muscular atrophy

Y. Qu, Hong Wang, J. Bai, 2015, European Journal of Human Genetics.

Phenylketonuria mutations in Northern China.

Y. Qu, Hong Wang, F. Song, 2005, Molecular genetics and metabolism.

Novel Alu-mediated deletions of the SMN1 gene were identified by ultra-long read sequencing technology in patients with spinal muscular atrophy

Y. Qu, Hong Wang, J. Bai, 2023, Neuromuscular Disorders.

Mutation Spectrum of the Survival of Motor Neuron 1 and Functional Analysis of Variants in Chinese Spinal Muscular Atrophy.

Y. Qu, Hong Wang, J. Bai, 2016, The Journal of molecular diagnostics : JMD.

Transmission characteristics of SMN from 227 spinal muscular atrophy core families in China

Yu-wei Jin, Y. Qu, Hong Wang, 2020, Journal of Human Genetics.

The SMN1 common variant c.22 dupA in Chinese patients causes spinal muscular atrophy by nonsense-mediated mRNA decay in humans.

Y. Qu, Hong Wang, J. Bai, 2018, Gene.