Analysis of an Inherited FXII Deficiency Pedigree Associated with Double Heterozygous Mutations in the F12 Gene-Reference-Cited by-同舟云学术

Analysis of an Inherited FXII Deficiency Pedigree Associated with Double Heterozygous Mutations in the F12 Gene

Published:2023-05-10 Issue:4 Volume:39 Page:712-714
ISSN:0971-4502
Container-title:Indian Journal of Hematology and Blood Transfusion
language:en
Short-container-title:Indian J Hematol Blood Transfus

Author:

Zeng Manlin,Jia Kaiqi,Xie Haixiao,Xie Yaosheng,Yang Lihong,Chen Yuan,Jin Yanhui,Wang Mingshan

Funder

Key Laboratory of Clinical Laboratory Diagnosis and Translational Research of Zhejiang Province

Science and Technology Plan Project of Wenzhou, China

Publisher

Springer Science and Business Media LLC

Subject

Hematology

Link

https://link.springer.com/content/pdf/10.1007/s12288-023-01666-x.pdf

Reference5 articles.

1. Matsuki E, Miyakawa Y, Okamoto S (2011) A novel factor XII mutation, FXII R84P, causing factor XII deficiency in a patient with hereditary spastic paraplegia. Blood Coagul Fibrin 22(3):227–230

2. Cheng X, Yang L, Huang G et al (2017) Genetic analysis of a hereditary factor XII deficiency pedigree of a consanguineous marriage due to a homozygous F12 gene mutation: Gly341Arg. Hematology 22(5):310–315

3. Suzuki K, Murai K, Suwabe A et al (2010) Factor XII Ofunato: Lys346Asn mutation associated with blood coagulation factor XII deficiency causes impaired secretion through a proteasome-mediated degradation. Thromb Res 125(5):438–443

4. Yang L, Wang Y, Zhou J et al (2016) Identification of genetic defects underlying FXII deficiency in four unrelated Chinese patients. Acta Haematol 135(4):238–240

5. Xie H, Wang M, Xie Y et al (2010) Analysis of the factor XII gene mutation in a Chinese pedigree with congenital blood coagulation factor XII deficiency. Chin J Lab Med 33(4):300–304