Late-onset hereditary sensory and autonomic neuropathy type 2B caused by novel compound heterozygous mutations in FAM134B presenting as chronic recurrent ulcers on the soles-Reference-Cited by-全球学者库

Late-onset hereditary sensory and autonomic neuropathy type 2B caused by novel compound heterozygous mutations in FAM134B presenting as chronic recurrent ulcers on the soles

Published:2021-04-23 Issue: Volume:87 Page:455-455
ISSN:0378-6323
Container-title:Indian Journal of Dermatology, Venereology and Leprology
language:en
Short-container-title:IJDVL

Author:

Luo Ze-Yu,Wang Hui-Jun¹,Zhao Yu-Kun,Liu Juan-Hua,Chen Ying-Ming²,Lin Zhi-Miao¹,Luo Di-Qing

Affiliation:

1. Department of Dermatology, Peking University First Hospital, Beijing Key Laboratory of Molecular Diagnosis on Dermatoses and National Clinical Research Center for Skin and Immune Diseases, Beijing, China

2. Department of Radiology, The East Division of The First Affiliated Hospital, Sun Yat-sen University, Guangzhou, China

Publisher

Scientific Scholar

Subject

Infectious Diseases,Dermatology

Reference5 articles.

1. Mutation in FAM134B causing hereditary sensory neuropathy with spasticity in a Turkish family;Ilgaz Aydinlar;Muscle Nerve,2014

2. Mutation in FAM134B causing severe hereditary sensory neuropathy;Murphy;J Neurol Neurosurg Psychiatry,2012

3. ETREG1 (FAM134B): A new player in human diseases: 15 years after the discovery in cancer;Islam;J Cell Physiol,2018

4. Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy;Kurth;Nat Genet,2009

5. Frequency of mutations in the genes associated with hereditary sensory and autonomic neuropathy in a UK cohort;Davidson;J Neurol,2012

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3. The pivotal role of FAM134B in selective ER-phagy and diseases;Biochimica et Biophysica Acta (BBA) - Molecular Cell Research;2022-08

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