Exome sequencing confirms molecular diagnoses in 38 Chinese families with hereditary spherocytosis-Reference-Cited by-同舟云学术

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Exome sequencing confirms molecular diagnoses in 38 Chinese families with hereditary spherocytosis

Published:2018-03-19 Issue:8 Volume:61 Page:947-953
ISSN:1674-7305
Container-title:Science China Life Sciences
language:en
Short-container-title:Sci. China Life Sci.

Author:

Wang Rongrong,Yang Shuanghao,Xu Ming,Huang Jia,Liu Hongyan,Gu Weiyue,Zhang Xue

Publisher

Springer Science and Business Media LLC

Subject

General Agricultural and Biological Sciences,General Environmental Science,General Biochemistry, Genetics and Molecular Biology

Link

http://link.springer.com/article/10.1007/s11427-017-9232-6/fulltext.html

Reference42 articles.

1. Agarwal, A.M., Nussenzveig, R.H., Reading, N.S., Patel, J.L., Sangle, N., Salama, M.E., Prchal, J.T., Perkins, S.L., Yaish, H.M., and Christensen R.D. (2016). Clinical utility of next-generation sequencing in the diagnosis of hereditary haemolytic anaemias. Br J Haematol 174, 806–814.

2. An, X., and Mohandas, N. (2008). Disorders of red cell membrane. Br J Haematol 141, 367–375.

3. Bassères, D.S., Vicentim, D.L., Costa, F.F., Saad, S.T., and Hassoun, H. (1998). Beta-spectrin Promiss-ao: a translation initiation codon mutation of the beta-spectrin gene (ATG→GTG) associated with hereditary spherocytosis and spectrin deficiency in a Brazilian family. Blood 91, 368–369.

4. Becker, P.S., Tse, W.T., Lux, S.E., and Forget, B.G. (1993). Beta spectrin kissimmee: a spectrin variant associated with autosomal dominant hereditary spherocytosis and defective binding to protein 4.1. J Clin Invest 92, 612–616.

5. Bouhassira, E.E., Schwartz, R.S., Yawata, Y., Ata, K., Kanzaki, A., Qiu, J. J., Nagel, R.L., and Rybicki, A.C. (1992). An alanine-to-threonine substitution in protein 4.2 cDNA is associated with a Japanese form of hereditary hemolytic anemia (protein 4.2NIPPON). Blood 79, 1846–1854.

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3. Intragenic deletions in SPTB are associated with hereditary spherocytosis: Series of 12 cases;British Journal of Haematology;2024-08-07

4. Clinical and genetic characteristics of Chinese pediatric and adult patients with hereditary spherocytosis;Orphanet Journal of Rare Diseases;2024-07-24

5. Identification of a novel ANK1 gene variant c.1504-9G>A and its mechanism of intron retention in hereditary spherocytosis;Frontiers in Genetics;2024-04-09

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