Novel variant of MYH9 associated with mild evaluation of MYH9 related disorder in a Chinese family-Reference-Cited by-同舟云学术

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Novel variant of MYH9 associated with mild evaluation of MYH9 related disorder in a Chinese family

Published:2021-05-19 Issue:10 Volume:59 Page:e398-e400
ISSN:1434-6621
Container-title:Clinical Chemistry and Laboratory Medicine (CCLM)
language:en
Short-container-title:

Author:

Lian Xiaoqiang¹,Wang Yuxin²,Gao Jie²,Liu Heqiong²,Hao Jihong³,Kunishima Shinji¹

Affiliation:

1. Department of Clinical Laboratory , The Second Hospital of Hebei Medical University , Shijiazhuang , P.R. China

2. Department of Laboratory Medicine , College of Medical Technology, Hebei Medical University , Shijiazhuang , P.R. China

3. Department of Medical Technology , Gifu University of Medical Science , Gifu , Japan

Publisher

Walter de Gruyter GmbH

Subject

Biochemistry, medical,Clinical Biochemistry,General Medicine

Link

https://www.degruyter.com/document/doi/10.1515/cclm-2021-0205/pdf

Reference12 articles.

1. Bury, L, Megy, K, Stephens, JC, Grassi, L, Greene, D, Gleadall, N, et al.. Next‐generation sequencing for the diagnosis of MYH9‐RD: predicting pathogenic variants. Hum Mutat 2020;41:277–90. https://doi.org/10.1002/humu.23927.

2. Pecci, A, Klersy, C, Gresele, P, Lee, KJ, De Rocco, D, Bozzi, V, et al.. MYH9‐related disease: a novel prognostic model to predict the clinical evolution of the disease based on genotype–phenotype correlations. Hum Mutat 2014;35:236–47. https://doi.org/10.1002/humu.22476.

3. Noris, P, Balduini, CL. Inherited thrombocytopenias in the era of personalized medicine. Haematologica 2015;100:145–8. https://doi.org/10.3324/haematol.2014.122549.

4. Rabbolini, DJ, Chun, Y, Latimer, M, Kunishima, S, Fixter, K, Valecha, B, et al.. Diagnosis and treatment of MYH9-RD in an Australasian cohort with thrombocytopenia. Platelets 2018;29:793–800. https://doi.org/10.1080/09537104.2017.1356920.

5. Zhang, Y, Conti, MA, Malide, D, Dong, F, Wang, A, Shmist, YA, et al.. Mouse models of MYH9-related disease: mutations in nonmuscle myosin II-A. Blood 2012;119:238–50. https://doi.org/10.1182/blood-2011-06-358853.

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