Five novel mutations in the ADAR1 gene associated with dyschromatosis symmetrica hereditaria

BMC Medical Genetics

Volumn 15, Issue 1, 2014, Pages

  Liu, Qi ^a   Wang, Zhen ^b   Wu, Yuhong ^a   Cao, Lihua ^a   Tang, Qingzhu ^a   Xing, Xuesha ^a   Ma, Hongwei ^a   Zhang, Shifa ^c   Luo, Yang ^a  

^a CHINA MEDICAL UNIVERSITY   (China)

^b Shenyang No7 People's Hospital   (China)

^c GENERAL HOSPITAL OF NORTHERN THEATER COMMAND   (China)

Author keywords

ADAR1; Dyschromatosis symmetrica hereditaria; Exonic splicing mutation; in vitro expression assay; in vivo mRNA assay

Indexed keywords

ADENOSINE DEAMINASE; ADENOSINE DEAMINASE 1; UNCLASSIFIED DRUG;

3' UNTRANSLATED REGION; 5' UNTRANSLATED REGION; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CHILD; CHINESE; CODING; CONTROLLED STUDY; DONOR SITE; DYSCHROMATOSIS SYMMETRICA HEREDITARIA; EXON; EXON SKIPPING; GENE DELETION; GENE EXPRESSION; GENE MUTATION; GENETIC ASSOCIATION; HUMAN; HUMAN CELL; INDEL MUTATION; INTRON; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NONSENSE MUTATION; POINT MUTATION; RNA EDITING; RNA SPLICING; SKIN DISEASE;

ADENOSINE DEAMINASE; ASIAN CONTINENTAL ANCESTRY GROUP; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; HUMANS; INTRONS; MALE; MUTATION; PEDIGREE; PHENOTYPE; PIGMENTATION DISORDERS; RNA SPLICING; SEQUENCE ANALYSIS, DNA;

EID: 84902756821     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-15-69     Document Type: Article

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