A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A.

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作者： Tatiana I,Meshcheryakova ^[1] ; Rena A,Zinchenko ; Tatiana A,Vasilyeva ; Andrey V,Marakhonov ; Svetlana S,Zhylina ; Nika V,Petrova ; Tatiana V,Kozhanova ; Maxim S,Belenikin ; Alexander N,Petrin ; Gennady R,Mutovin

作者单位： Scientific and Practical Centre of Medical Care for Children, Aviatorov Str., 38, Moscow, 119620, Russian Federation. ^[1]

关键词 Branchio-oculo-facial syndrome (BOFS)TFAP2A gene cleft lip cleft palate mutation analysis

主题词青少年(Adolescent);鳃耳肾综合征(Branchio-Oto-Renal Syndrome);儿童(Child);儿童, 学龄前(Child, Preschool);DNA突变分析(DNA Mutational Analysis);女(雌)性(Female);人类(Humans);婴儿(Infant);婴儿, 新生(Infant, Newborn);男(雄)性(Male);突变, 误义(Mutation, Missense);俄罗斯(Russia);转录因子AP-2(Transcription Factor AP-2);青年人(Young Adult)

DOI 10.1111/ahg.12098

PMID 25590586

发布时间 2015-02-19

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Annals of human genetics

2015年79卷2期

148-52页

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A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A.

Annals of human genetics

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Annals of human genetics

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A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A.

Annals of human genetics

相似文献

Annals of human genetics

相关期刊

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