Two different pathogenic gene mutations coexisted in the same hereditary spherocytosis family manifested with heterogeneous phenotypes-Reference-Cited by-同舟云学术

Two different pathogenic gene mutations coexisted in the same hereditary spherocytosis family manifested with heterogeneous phenotypes

Published:2019-05-24 Issue:1 Volume:20 Page:
ISSN:1471-2350
Container-title:BMC Medical Genetics
language:en
Short-container-title:BMC Med Genet

Author:

Shen Hongwei,Huang Hui,Luo Kaizhong,Yi Yan^ORCID,Shi Xiaoliu

Funder

National Natural Science Foundation of China

Natural Science Foundation of Hunan province

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1186/s12881-019-0826-7.pdf

Reference19 articles.

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2. Bolton-Maggs PH, Langer JC, Iolascon A, Tittensor P, King MJ, General Haematology Task Force of the British Committee for Standards in Haematology. Guidelines for the diagnosis and management of hereditary spherocytosis--2011 update. Br J Haematol. 2012;156:37–49.

3. Yi Y, Dang X, Li Y, Zhao C, Tang H, Shi X. Genetic diagnosis and pathogenic analysis of an atypical hereditary spherocytosis combined with UGT1A1 partial deficiency: A case report. Mol Med Rep. 2018;17:382–7.

4. Ma S, Deng X, Liao L, Deng Z, Qiu Y, Wei H, et al. Analysis of the causes of the misdiagnosis of hereditary spherocytosis. Oncol Rep. 2018;40:1451–8.

5. Andolfo I, Russo R, Gambale A, Iolascon A. New insights on hereditary erythrocyte membrane defects. Haematologica. 2016;101:1284–94.

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