Massively parallel sequencing identifies a previously unrecognized X-linked disorder resulting in lethality in male infants owing to amino-terminal acetyltransferase deficiency

作者： Alan F Rope , Kai Wang , Rune Evjenth , Jinchuan Xing , Jennifer J Johnston

DOI: 10.1186/GB-2011-12-S1-P13

关键词: Human genetics 、 Gene prioritization 、 Lethality 、 Massive parallel sequencing 、 Genetics 、 Biology 、 Global developmental delay 、 Acetyltransferase 、 Amino terminal