Asp58Ala is the Predominant Mutation of theTTRGene in Korean Patients with Hereditary Transthyretin-Related Amyloidosis-Reference-Cited by-同舟云学术

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Asp58Ala is the Predominant Mutation of theTTRGene in Korean Patients with Hereditary Transthyretin-Related Amyloidosis

Published:2015-01-23 Issue:2 Volume:79 Page:99-107
ISSN:0003-4800
Container-title:Annals of Human Genetics
language:en
Short-container-title:Annals of Human Genetics

Author:

Jang Mi-Ae¹,Lee Ga Yeon²,Kim Kihyun³,Kim Seok-Jin³,Kim Jung-Sun⁴,Lee Soo-Youn¹,Kim Hee-Jin¹,Jeon Eun-Seok²

Affiliation:

1. Department of Laboratory Medicine and Genetics; Sungkyunkwan University School of Medicine; Seoul South Korea

2. Division of Cardiology; Department of Medicine; Sungkyunkwan University School of Medicine; Seoul South Korea

3. Division of Hematology-Oncology; Department of Medicine; Sungkyunkwan University School of Medicine; Seoul South Korea

4. Department of Pathology; Samsung Medical Center; Sungkyunkwan University School of Medicine; Seoul South Korea

Funder

Korea Centers for Disease Control and Prevention

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/ahg.12101/fullpdf

Reference33 articles.

1. Guideline of transthyretin-related hereditary amyloidosis for clinicians;Ando;Orphanet J Rare Dis,2013

2. Identification of carriers of a variant plasma prealbumin (transthyretin) associated with familial amyloidotic polyneuropathy type I;Benson;J Clin Invest,1985

3. The molecular biology and clinical features of amyloid neuropathy;Benson;Muscle Nerve,2007

4. Phenotypic expression of familial amyloid polyneuropathy in Brazil;Bittencourt;Eur J Neurol,2005

5. Familial transthyretin amyloidosis with variant Asp38Ala presenting with orthostatic hypotension and chronic diarrhea;Cho;J Cardiovasc Ultrasound,2012

Cited by 8 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. Case Report: A rare transthyretin mutation p.D58Y in a Chinese case of transthyretin amyloid cardiomyopathy;Frontiers in Cardiovascular Medicine;2024-05-22

2. Cardiac Amyloidosis in the Setting of a Sarcomatous Pericardial Mass;Cureus;2023-06-22

3. Three Newly Recognized Likely Pathogenic Gene Variants Associated with Hereditary Transthyretin Amyloidosis;Neurology and Therapy;2022-08-06

4. OCULAR MANIFESTATIONS OF ASP38ALA AND THR59LYS FAMILIAL TRANSTHYRETIN AMYLOIDOSIS;Retina;2022-02

5. Elderly patients with suspected Charcot-Marie-Tooth disease should be tested for the TTR gene for effective treatments;Journal of Human Genetics;2022-01-14

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