Structural and functional differences in phox2b frameshift mutations underlie isolated or syndromic congenital central hypoventilation syndrome
- 期刊名称Human Mutation
- 作者Di Lascio, Simona; Benfante, Roberta; Di Zanni, Eleonora; Cardani, Silvia; Adamo, Annalisa; Fornasari, Diego; Ceccherini, Isabella; Bachetti, Tiziana
- 印刷ISSN1059-7794
- 文件大小2398.57KB
- 发表时间2017-11-02
- DOI10.1002/humu.23365
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