一名患有卡尔曼综合征和听力损失的患者出现从头发生的SOX10无义突变。 - Suppr

De novo SOX10 nonsense mutation in a patient with Kallmann syndrome and hearing loss.

作者信息

Vaaralahti Kirsi, Tommiska Johanna, Tillmann Vallo, Liivak Natalja, Känsäkoski Johanna, Laitinen Eeva-Maria, Raivio Taneli

机构信息

Institute of Biomedicine/Physiology, University of Helsinki, Helsinki, Finland.

1] Institute of Biomedicine/Physiology, University of Helsinki, Helsinki, Finland [2] Children's Hospital, Helsinki University Central Hospital (HUCH), Helsinki, Finland.

出版信息

Pediatr Res. 2014 Jul;76(1):115-6. doi: 10.1038/pr.2014.60. Epub 2014 Apr 25.

DOI:10.1038/pr.2014.60

PMID:24769923

Abstract

摘要

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De novo SOX10 nonsense mutation in a patient with Kallmann syndrome and hearing loss.

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