An Intron Mutation in the ACVRL1 May Be Associated with a Transcriptional Regulation Defect in a Chinese Family with Hereditary Hemorrhagic Telangiectasia

PLoS ONE

Volumn 8, Issue 2, 2013, Pages

  Yu, Qian ^a   Shen, Xiao Hui ^a   Li, Ying ^a   Li, Rui Juan ^a   Li, Ji ^a   Luo, Yun Ya ^a   Liu, Su Fang ^a   Deng, Ming Yang ^a   Pei, Min Fei ^a   Zhang, Guang Sen ^a  

^a CENTRAL SOUTH UNIVERSITY   (China)

Author keywords

[No Author keywords available]

Indexed keywords

ACTIVIN RECEPTOR LIKE KINASE 1; MESSENGER RNA; TRANSCRIPTION FACTOR SP1;

ACVRL1 GENE; ADULT; ARTICLE; CHINESE; CLINICAL ARTICLE; CONTROLLED STUDY; FAMILY STUDY; FEMALE; GENE DELETION; GENE MUTATION; GENE REARRANGEMENT; GENE STRUCTURE; GENETIC ASSOCIATION; GENETIC VARIABILITY; HUMAN; HUMAN CELL; INTRON; INTRON MUTATION; MOLECULAR PATHOLOGY; NUCLEIC ACID BASE SUBSTITUTION; RENDU OSLER WEBER DISEASE; RNA SPLICING; TRANSCRIPTION REGULATION;

ACTIVIN RECEPTORS, TYPE II; ADULT; ANTIGENS, CD; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; BINDING SITES; CHILD, PRESCHOOL; CHINA; CONSENSUS SEQUENCE; DOWN-REGULATION; FAMILY; FEMALE; GASTRIC MUCOSA; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INTRONS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PROTEIN BINDING; RECEPTORS, CELL SURFACE; RNA, MESSENGER; TELANGIECTASIA, HEREDITARY HEMORRHAGIC; TRANSCRIPTION, GENETIC; UP-REGULATION;

EID: 84874536018     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0058031     Document Type: Article

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