High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets-Reference-Cited by-同舟云学术

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High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets

Published:2016-01 Issue:1 Volume:18 Page:41-48
ISSN:1098-3600
Container-title:Genetics in Medicine
language:en
Short-container-title:Genetics in Medicine

Author:

Wassif Christopher A.,Cross Joanna L.,Iben James,Sanchez-Pulido Luis,Cougnoux Antony,Platt Frances M.,Ory Daniel S.,Ponting Chris P.,Bailey-Wilson Joan E.,Biesecker Leslie G.,Porter Forbes D.

Publisher

Elsevier BV

Subject

Genetics (clinical)

Link

http://www.nature.com/articles/gim201525.pdf

Reference40 articles.

Cited by 173 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. Clinical presentation and molecular genetics of Iranian patients with Niemann-pick type C disease and report of 6 NPC1 gene novel variants: A case series;Molecular Genetics and Metabolism Reports;2024-09

2. Clinical and genetic analysis of Niemann-Pick disease type C with a novel NPC1 variant;Journal of Rare Diseases;2024-07-08

3. More evidence for widespread antagonistic pleiotropy in polymorphic disease alleles;Frontiers in Genetics;2024-06-17

4. Swallowing characterization of adult-onset Niemann-Pick, type C1 patients;Orphanet Journal of Rare Diseases;2024-06-11

5. Novel compound heterozygous mutations of the NPC1 gene associated with Niemann-pick disease type C: a case report and review of the literature;BMC Infectious Diseases;2024-01-30

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