A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies.

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第一作者： Matteo,Bovolenta

第一单位： Sezione di Genetica Medica, University of Ferrara, Italy. bvlmtt@unife.it

作者： Matteo,Bovolenta ^[1] ; Marcella,Neri ; Sergio,Fini ; Marina,Fabris ; Cecilia,Trabanelli ; Anna,Venturoli ; Elena,Martoni ; Elena,Bassi ; Pietro,Spitali ; Simona,Brioschi ; Maria S,Falzarano ; Paola,Rimessi ; Roberto,Ciccone ; Emma,Ashton ; Joanne,McCauley ; Shu,Yau ; Stephen,Abbs ; Francesco,Muntoni ; Luciano,Merlini ; Francesca,Gualandi ; Alessandra,Ferlini

作者单位： Sezione di Genetica Medica, University of Ferrara, Italy. bvlmtt@unife.it ^[1]

主题词 3'非翻译区(3' Untranslated Regions);比较基因组杂交(Comparative Genomic Hybridization);肌营养不良蛋白(Dystrophin);基因剂量(Gene Dosage);基因重排(Gene Rearrangement);人类(Humans);内含子(Introns);肌营养不良(Muscular Dystrophies);突变(Mutation)

DOI 10.1186/1471-2164-9-572

PMID 19040728

发布时间 2022-03-21

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BMC genomics

2008年9卷

572页

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A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies.

BMC genomics

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BMC genomics

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A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies.

BMC genomics

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BMC genomics

相关期刊

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