Novel compound heterozygous PIGT mutations caused multiple congenital anomalies-hypotonia-seizures syndrome 3
出版年份 2014 全文链接
标题
Novel compound heterozygous PIGT mutations caused multiple congenital anomalies-hypotonia-seizures syndrome 3
作者
关键词
Whole exome sequencing, <em class=EmphasisTypeItalic >PIGT</em>, Compound heterozygous mutations, Glycosylphosphatidylinositol-anchored protein, Multiple congenital anomalies-hypotonia-seizures syndrome 3, Hypophosphatasia
出版物
NEUROGENETICS
Volume 15, Issue 3, Pages 193-200
出版商
Springer Nature
发表日期
2014-06-11
DOI
10.1007/s10048-014-0408-y
参考文献
相关参考文献
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