Genotype-phenotype correlation in non-Hallopeau-Siemens recessive dystrophic epidermolysis bullosa : The splice site mutation c.6216+5G>T in the COL7A1 gene results in aberrant and normal splicings
Genotype-phenotype correlation in non-Hallopeau-Siemens recessive dystrophic epidermolysis bullosa : The splice site mutation c.6216+5G>T in the COL7A1 gene results in aberrant and normal splicings
复制标题
非 Hallopeau-Siemens 隐性营养不良性大疱性表皮松解症的基因型-表型相关性:COL7A1 基因中的剪接位点突变 c.6216 5G>T 导致异常和正常剪接
DOI:
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发表时间:
2008
期刊:
影响因子:
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通讯作者:
Hamada T
中科院分区:
文献类型:
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作者:
Shiraishi N;Kabashima K;Tokura Y;Kivisaari AK;Hamada T