Novel beta-galactosidase gene mutation p. W273R in a woman with mucopolysaccharidosis tyoe ICB (Morqui B)and lack of response to in vitro chaperone treatment of her skin fibroblasts.

Novel beta-galactosidase gene mutation p. W273R in a woman with mucopolysaccharidosis tyoe ICB (Morqui B)and lack of response to in vitro chaperone treatment of her skin fibroblasts.
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新的β-半乳糖苷酶基因突变p。

DOI:
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发表时间:
2008
期刊:
Am J Med Genet 146A
影响因子:
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通讯作者:
Gucev ZS
Gucev ZS
中科院分区:
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文献类型:
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作者:
藤野寿典、平家俊男;ほか;Gucev ZS

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