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A novel L1340P mutation in the ANK1 gene is associated with hereditary spherocytosis?

作者信息

Bogusławska Dżamila M, Heger Elżbieta, Listowski Marcin, Wasiński Dariusz, Kuliczkowski Kazimierz, Machnicka Beata, Sikorski Aleksander F

机构信息

Faculty of Biological Sciences, University of Zielona Góra, Zielona Góra, Poland.

出版信息

Br J Haematol. 2014 Oct;167(2):269-71. doi: 10.1111/bjh.12960. Epub 2014 Jun 5.

DOI:10.1111/bjh.12960
PMID:24903897
Abstract
摘要

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A novel L1340P mutation in the ANK1 gene is associated with hereditary spherocytosis?ANK1基因中的一种新型L1340P突变与遗传性球形红细胞增多症有关吗?
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2
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[Identification of a novel ANK1 gene mutation in a newborn with hereditary spherocytosis].[一例遗传性球形红细胞增多症新生儿中ANK1基因突变的鉴定]
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Frequent de novo mutations of the ANK1 gene mimic a recessive mode of transmission in hereditary spherocytosis: three new ANK1 variants: ankyrins Bari, Napoli II and Anzio.ANK1基因频繁的新生突变在遗传性球形红细胞增多症中模拟隐性遗传模式:三种新的ANK1变体:锚蛋白巴里、那不勒斯II和安齐奥。
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