Homozygous intronic mutation leading to inefficient transcription combined with a novel frameshift mutation in F13A1 gene causes FXIII deficiency

Journal of Human Genetics

Volumn 56, Issue 6, 2011, Pages 460-463

  Wang, Wei ^a,b   Huang, Lijun ^a,c   Ma, Qiuling ^a,b   Xiao, Deqian ^a,b   Chen, Xiaodan ^a   Yang, Zhigang ^b   Wang, Xiaoying ^a   Zhou, Keyuan ^b   Li, Gang ^c   Xiao, Man ^a   Du, Guankui ^a   Hao, Xinbao ^a   Cai, Wangwei ^a  

^a HAINAN MEDICAL UNIVERSITY   (China)

^b GUANGDONG MEDICAL UNIVERSITY   (China)

^c PEKING UNIVERSITY HEALTH SCIENCE CENTER   (China)

Author keywords

F13A1 gene mutation; Frameshift mutation; FXIII deficiency; intronic mutation; intronic Sp1 binding site

Indexed keywords

ARTICLE; BINDING SITE; BLOOD CLOTTING FACTOR 13 DEFICIENCY; CONTROLLED STUDY; EXON; F13A1 GENE; FRAMESHIFT MUTATION; GEL MOBILITY SHIFT ASSAY; GENE; GENETIC TRANSCRIPTION; HUMAN; HUMAN CELL; INTRON; PLASMID; PROTEIN BINDING;

ADULT; BASE SEQUENCE; FACTOR XIII DEFICIENCY; FACTOR XIIIA; FEMALE; FRAMESHIFT MUTATION; GENE EXPRESSION REGULATION; HETEROZYGOTE; HOMOZYGOTE; HUMANS; INTRONS; MALE; MOLECULAR SEQUENCE DATA; PEDIGREE; U937 CELLS;

EID: 79959646381     PISSN: 14345161     EISSN: 1435232X     Source Type: Journal    
DOI: 10.1038/jhg.2011.41     Document Type: Article

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