一名患有条纹状骨病伴颅骨硬化症的女孩中发现新型AMER1移码突变。 - Suppr

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超能文献

Novel AMER1 frameshift mutation in a girl with osteopathia striata with cranial sclerosis.

作者信息

Enomoto Yumi, Tsurusaki Yoshinori, Harada Noriaki, Aida Noriko, Kurosawa Kenji

机构信息

Clinical Research Institute, Kanagawa Children's Medical Center, Yokohama, Japan.

Department of Clinical Laboratory, Kanagawa Children's Medical Center, Yokohama, Japan.

出版信息

Congenit Anom (Kyoto). 2018 Jul;58(4):145-146. doi: 10.1111/cga.12258. Epub 2017 Nov 16.

DOI:10.1111/cga.12258

PMID:28990699

Abstract

摘要

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