The First Korean Family With Hereditary Gelsolin Amyloidosis Caused by p.D214Y Mutation in the GSN Gene-Reference-Cited by-同舟云学术

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The First Korean Family With Hereditary Gelsolin Amyloidosis Caused by p.D214Y Mutation in the GSN Gene

Published:2016-05-01 Issue:3 Volume:36 Page:259-262
ISSN:2234-3806
Container-title:Annals of Laboratory Medicine
language:en
Short-container-title:Ann Lab Med

Author:

Park Kyoung-Jin¹,Park Jong-Ho¹,Park June-Hee²,Cho Eun Bin³,Kim Byoung Joon³,Kim Jong-Won¹⁴

Affiliation:

1. Department of Health Sciences and Technology, Samsung Advanced Institute for Health Sciences and Technology, Sungkyunkwan University, Seoul, Korea

2. Samsung Biomedical Research Institute, Samsung Medical Center, Seoul, Korea

3. Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea

4. Department of Laboratory Medicine & Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea

Publisher

Annals of Laboratory Medicine

Subject

Biochemistry, medical,Clinical Biochemistry,General Medicine

Link

http://synapse.koreamed.org/pdf/10.3343/alm.2016.36.3.259

Reference20 articles.

1. Genetic aspects of familial amyloidosis with corneal lattice dystrophy and cranial neuropathy

2. Finnish hereditary amyloidosis is caused by a single nucleotide substitution in the gelsolin gene

3. Clinical features and haplotype analysis of newly identified Japanese patients with gelsolin-related familial amyloidosis of Finnish type

4. Danish type gelsolin related amyloidosis: 654G-T mutation is associated with a disease pathogenetically and clinically similar to that caused by the 654G-A mutation (familial amyloidosis of the Finnish type)

Cited by 16 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. A Korean family with AGel amyloidosis presenting with progressive facial and bulbar palsies;Annals of Clinical Neurophysiology;2022-10-31

2. Hereditary gelsolin amyloidosis – clinical symptoms and molecular genetic cause;Česká a slovenská neurologie a neurochirurgie;2021-10-31

3. Improving the efficacy of exome sequencing at a quaternary care referral centre: novel mutations, clinical presentations and diagnostic challenges in rare neurogenetic diseases;Journal of Neurology, Neurosurgery & Psychiatry;2021-06-08

4. Clinical Features and Brain MRI Findings in Korean Patients with AGel Amyloidosis;Yonsei Medical Journal;2021

5. Analyses Mutations in GSN, CST3, TTR, and ITM2B Genes in Chinese Patients With Alzheimer’s Disease;Frontiers in Aging Neuroscience;2020-09-10

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