Identification of Ali-mediated, large deletion-spanning introns 19-26 in PHKA2 in a patient with X-linked liver glycogenosis(hepatic phosphorylase kinase deficiency).

Identification of Ali-mediated, large deletion-spanning introns 19-26 in PHKA2 in a patient with X-linked liver glycogenosis(hepatic phosphorylase kinase deficiency).
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X 连锁肝糖原增多症(肝磷酸化酶激酶缺乏症)患者 PHKA2 中 Ali 介导的大缺失内含子 19-26 的鉴定。

DOI:
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发表时间:
2007
期刊:
Molecular Genetics and Metabolism 92
影响因子:
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通讯作者:
Kondo N
Kondo N
中科院分区:
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文献类型:
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作者:
Fukao T;Zhang G;Aoki Y;Arai T;Teramoto T;Kaneko H;Sugie H;Kondo N

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