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Publications by Jinjie Xue

A Novel GJB1 Mutation Associated With X‐linked Charcot–Marie–Tooth Disease in a Large Chinese Family Pedigree

Molecular genetics & genomic medicine

Molecular Biology

English

Hutchinson-Gilford Progeria Syndrome Accompanied by Severe Skeletal Abnormalities in Two Chinese Siblings: Two Case Reports

Journal of Medical Case Reports

English

Related publications

Exome Sequencing Identifies a DYNC1H1 Mutation in a Large Pedigree With Dominant Axonal Charcot-Marie-Tooth Disease

American Journal of Human Genetics

English

X-Linked Charcot-Marie-Tooth Disease Type 3

English

Transient, Recurrent, White Matter Lesions in X-Linked Charcot-Marie-Tooth Disease With Novel Connexin 32 Mutation

Archives of Neurology

English

Exome Sequencing Reveals a Novel MFN2 Missense Mutation in a Chinese Family With Charcot‑Marie‑Tooth Type 2A

Experimental and Therapeutic Medicine

Cancer Research

English

The First De Novo Mutation of the Connexin 32 Gene Associated With X Linked Charcot-Marie-Tooth Disease.

Journal of Medical Genetics

English

Deletion of P2 Promoter of GJB1 Gene a Cause of Charcot-Marie-Tooth Disease

Neuromuscular Disorders

English

A Novel p.Val244Leu Mutation in MFN2 Leads to Charcot-Marie-Tooth Disease Type 2

Italian Journal of Pediatrics

English

Mutilating Neuropathic Ulcerations in a Chromosome 3q13-Q22 Linked Charcot-Marie-Tooth Disease Type 2B Family.

Journal of Neurology, Neurosurgery and Psychiatry

English

Charcot–Marie–Tooth Disease

English