Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of Spanish ancestry with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies-Reference-Cited by-同舟云学术

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Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of Spanish ancestry with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies

Published:1997-05-15 Issue:6 Volume:99 Page:746-754
ISSN:0340-6717
Container-title:Human Genetics
language:
Short-container-title:Human Genetics

Author:

Bort Sylvia,Nelis E.,Timmerman Vincent,Sevilla Teresa,Cruz-Martínez Antonio,Martínez Francisco,Millán José M.,Arpa Javier,Vílchez Juan J.,Prieto Felix,Broeckhoven Christine Van,Palau F.

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s004390050442.pdf

Cited by 123 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Hereditary spastic paraplegia and extensive leukoencephalopathy: a case report of a unique phenotype associated with a GJB1/Cx32 p.Pro174Ser variant;BMC Neurology;2024-09-04

2. Anesthetic Considerations for Patients with Hereditary Neuropathy with Liability to Pressure Palsies: A Narrative Review;Healthcare;2024-04-19

3. Rare PMP22 variants in mild to severe neuropathy uncorrelated to plasma GDF15 or neurofilament light;neurogenetics;2023-08-22

4. Noncanonical splice‐site variant in peripheral myelin protein 22 gene (PMP22) in a patient with hereditary neuropathy with liability to pressure palsies;Journal of the Peripheral Nervous System;2023-05-22

5. Peripheral Myelin Protein 22 Gene Mutations in Charcot-Marie-Tooth Disease Type 1E Patients;Genes;2022-07-08

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