换一批Egyptian glycogen storage disease type III - identification of six novel AGL mutations, including a large 1.5 kb deletion and a missense mutation p.L620P with subtype IIId.
第一作者：
Yoriko,Endo
第一单位：
Okinaka Memorial Institute for Medical Research, Tokyo, Japan.
作者：
医学主题词
氨基酸序列(Amino Acid Sequence);动物(Animals);碱基序列(Base Sequence);病例对照研究(Case-Control Studies);儿童(Child);儿童, 学龄前(Child, Preschool);共有序列(Consensus Sequence);DNA突变分析(DNA Mutational Analysis);埃及(Egypt);糖原脱支酶系统(Glycogen Debranching Enzyme System);糖原贮积病Ⅲ型(Glycogen Storage Disease Type III);人类(Humans);男(雄)性(Male);分子序列数据(Molecular Sequence Data);突变, 误义(Mutation, Missense);序列缺失(Sequence Deletion);转移酶类(Transferases)
DOI
10.1515/CCLM.2009.281
PMID
19754354
发布时间
2022-12-07
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