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引用本文的文献

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Investigation on the high recurrence of the ATTRv-causing transthyretin variant Val142Ile in central Italy.意大利中部致甲状腺素运载蛋白变异型 Val142Ile 高复发的研究。
Eur J Hum Genet. 2023 May;31(5):541-547. doi: 10.1038/s41431-022-01235-2. Epub 2022 Nov 15.
2
Editor's notes.编者按。
J Community Hosp Intern Med Perspect. 2015 Apr 1;5(2):27863. doi: 10.3402/jchimp.v5.27863. eCollection 2015.

本文引用的文献

1
Transthyretin cardiac amyloidosis: an under-diagnosed cause of heart failure.转甲状腺素蛋白心脏淀粉样变性：一种诊断不足的心力衰竭病因。
J Community Hosp Intern Med Perspect. 2014 Nov 25;4(5):25500. doi: 10.3402/jchimp.v4.25500. eCollection 2014.
2
The first Caucasian patient with p.Val122Ile mutated-transthyretin cardiac amyloidosis treated with isolated heart transplantation.首例 p.Val122Ile 突变转甲状腺素蛋白心脏淀粉样变的高加索裔患者接受了心脏单独移植治疗。
Amyloid. 2012 Jun;19(2):113-7. doi: 10.3109/13506129.2012.666509. Epub 2012 Mar 27.
3
Methylation-mediated deamination of 5-methylcytosine appears to give rise to mutations causing human inherited disease in CpNpG trinucleotides, as well as in CpG dinucleotides.5-甲基胞嘧啶的甲基化介导的脱氨基作用似乎导致了 CpNpG 三核苷酸以及 CpG 二核苷酸中的人类遗传疾病突变。
Hum Genomics. 2010 Aug;4(6):406-10. doi: 10.1186/1479-7364-4-6-406.
4
Transthyretin-related amyloidoses and the heart: a clinical overview.转甲状腺素相关淀粉样变性病与心脏：临床概述。
Nat Rev Cardiol. 2010 Jul;7(7):398-408. doi: 10.1038/nrcardio.2010.67. Epub 2010 May 18.
5
A prospective evaluation of the transthyretin Ile122 allele frequency in an African-American population.非裔美国人人群中转甲状腺素蛋白Ile122等位基因频率的前瞻性评估。
Amyloid. 2005 Jun;12(2):127-30. doi: 10.1080/13506120500107162.
6
Cardiac amyloidosis associated with the transthyretin Ile122 mutation in a Caucasian family.一个白种人家庭中与转甲状腺素蛋白Ile122突变相关的心脏淀粉样变性
Amyloid. 2001 Dec;8(4):263-9. doi: 10.3109/13506120108993823.
7
Hereditary cardiac amyloidosis associated with the transthyretin Ile122 mutation in a white man.一名白人男性中与转甲状腺素蛋白Ile122突变相关的遗传性心脏淀粉样变性
Heart. 1999 Sep;82(3):e2. doi: 10.1136/hrt.82.3.e2.

The Val142Ile transthyretin cardiac amyloidosis: more than an Afro-American pathogenic variant.

作者信息

Perfetto Federico, Frusconi Sabrina, Bergesio Franco, Grifoni Elisa, Fabbri Alessia, Giuliani Costanza, Falconi Serena, Bonifacio Stefania, Cappelli Francesco

机构信息

Regional Amyloid Center, Azienda Ospedaliero Universitaria Careggi, Florence, Italy, Department of Internal and Experimental Medicine, University of Florence, Florence, Italy;

Genetic Diagnostics Unit, Laboratory Department, Careggi University Hospital, Florence, Italy.

出版信息

J Community Hosp Intern Med Perspect. 2015 Apr 1;5(2):26931. doi: 10.3402/jchimp.v5.26931. eCollection 2015.

DOI:10.3402/jchimp.v5.26931
PMID:25846356
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4387316/
Abstract
摘要