在一名具有轻度表型的儿童的DNA中鉴定出两种致病性NF1基因突变。 - Suppr

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超能文献

Two pathogenic NF1 gene mutations identified in DNA from a child with mild phenotype.

作者信息

Terzi Yunus Kasim, Sirin Burcu, Hosgor Guzen, Serdaroglu Esra, Anlar Banu, Aysun Sabiha, Ayter Sukriye

机构信息

Department of Medical Biology, Faculty of Medicine, Hacettepe University, Ankara, Turkey.

出版信息

Childs Nerv Syst. 2012 Jun;28(6):943-6. doi: 10.1007/s00381-011-1648-x. Epub 2011 Dec 9.

DOI:10.1007/s00381-011-1648-x

PMID:22159552

Abstract

摘要

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