Novel Compound Heterozygous DST Variants Causing Hereditary Sensory and Autonomic Neuropathies VI in Twins of a Chinese Family

Background: Hereditary sensory and autonomic neuropathies (HSANs) are a rare and severe group of sensory axonal neuropathies. HSANs have been classified into eight groups based on mode of inheritance, clinical features, and the involved genes. HSAN-VI, perhaps the most notable type, is an autosomal...

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Publicado en:Front Genet
Autores principales: Jin, Jie-Yuan, Wu, Pan-Feng, He, Ji-Qiang, Fan, Liang-Liang, Yuan, Zhuang-Zhuang, Pang, Xiao-Yang, Tang, Ju-Yu, Zhang, Li-Yang
Formato: Artigo
Lenguaje:Inglês
Publicado: Frontiers Media S.A. 2020
Materias:
Genetics
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC7262964/
https://ncbi.nlm.nih.gov/pubmed/32528525
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2020.00492
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