Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D-Reference-Cited by-同舟云学术

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Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D

Published:2014-05 Issue:5 Volume:16 Page:386-394
ISSN:1098-3600
Container-title:Genetics in Medicine
language:en
Short-container-title:Genetics in Medicine

Author:

Okamoto Yuji,Goksungur Meryem Tuba,Pehlivan Davut,Beck Christine R.,Gonzaga-Jauregui Claudia,Muzny Donna M.,Atik Mehmed M.,Carvalho Claudia M.B.,Matur Zeliha,Bayraktar Serife,Boone Philip M.,Akyuz Kaya,Gibbs Richard A.,Battaloglu Esra,Parman Yesim,Lupski James R.

Publisher

Elsevier BV

Subject

Genetics (clinical)

Link

http://www.nature.com/articles/gim2013155.pdf

Reference30 articles.

Cited by 31 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. Identification and Characterization of Novel Founder Mutations in NDRG1: Refining the Genetic Landscape of Charcot–Marie–Tooth Disease Type 4D in Bulgaria;International Journal of Molecular Sciences;2024-08-21

2. HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data;Nucleic Acids Research;2023-12-28

3. NDRG1 is induced by antigen-receptor signaling but dispensable for B and T cell self-tolerance;Communications Biology;2022-11-10

4. Hereditary motor and sensory neuropathy with SOD1-mutant: A case report;Medicine;2022-10-28

5. Aberrant Neuregulin 1/ErbB Signaling in Charcot-Marie-Tooth Type 4D Disease;Molecular and Cellular Biology;2022-07-01

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