Characterization of 26 deletion CNVs reveals the frequent occurrence of micro-mutations within the breakpoint-flanking regions and frequent repair of double-strand breaks by templated insertions derived from remote genomic regions

Human Genetics

Volumn 134, Issue 6, 2015, Pages 589-603

  Wang, Ye ^a,b   Su, Peiqiang ^b   Hu, Bin ^a   Zhu, Wenjuan ^c   Li, Qibin ^c   Yuan, Ping ^a,b   Li, Jiangchao ^d,e   Guan, Xinyuan ^d,f   Li, Fucheng ^a   Jing, Xiangyi ^a,g   Li, Ru ^g   Zhang, Yongling ^g   Férec, Claude ^h,i,j,k   Cooper, David N ^l   Wang, Jun ^c,m   Huang, Dongsheng ^b   Chen, Jian Min ^h,i,j   Wang, Yiming ^a,c  

^a SUN YAT SEN UNIVERSITY   (China)

^b SUN YAT SEN UNIVERSITY   (China)

^c BGI SHENZHEN   (China)

^d SUN YAT SEN UNIVERSITY CANCER CENTER   (China)

^e GUANGDONG PHARMACEUTICAL UNIVERSITY   (China)

^f UNIVERSITY OF HONG KONG   (Hong Kong)

^g GUANGZHOU MEDICAL UNIVERSITY   (China)

^h INSERM   (France)

ⁱ ETABLISSEMENT FRANÇAIS DU SANG   (France)

^j FACULTÉ DE MÉDECINE ET DES SCIENCES DE LA SANTÉ   (France)

^k CHU MORVAN   (France)

^l CARDIFF UNIVERSITY   (United Kingdom)

^m UNIVERSITY OF COPENHAGEN   (Denmark)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CHLORIDE CHANNEL; CLC-5 CHLORIDE CHANNEL; EXOSTOSIN-2; N ACETYLGLUCOSAMINYLTRANSFERASE;

AUTISM; CANADA; COPY NUMBER VARIATION; DOUBLE STRANDED DNA BREAK; FAMILY; FEMALE; GENE DELETION; GENETIC DISORDER; GENETICS; HUMAN; HUMAN GENOME; MALE;

CANADA; CHILD DEVELOPMENT DISORDERS, PERVASIVE; CHLORIDE CHANNELS; DNA BREAKS, DOUBLE-STRANDED; DNA COPY NUMBER VARIATIONS; FAMILY; FEMALE; GENETIC DISEASES, INBORN; GENOME, HUMAN; HUMANS; MALE; N-ACETYLGLUCOSAMINYLTRANSFERASES; SEQUENCE DELETION;

EID: 84936767018     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: 10.1007/s00439-015-1539-4     Document Type: Article

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