Novel deletion mutation of DSRAD in a Chinese family with Dyschromatosis Symmetrica Hereditaria (DSH) [3]

European Journal of Dermatology

Volumn 17, Issue 3, 2007, Pages 247-248

  Xing, Qinghe ^a,c   Shu, Anli ^b   Yu, Lan ^a,c   Zhang, Aiping ^a,c   Du, Jing ^a,c   Xuan, Jiekun ^a,c   Wang, Lei ^a,c   He, Guang ^a,c   Meng, Junwei ^a,c   Li, Xingwang ^a,c   Feng, Guoyin ^a,c   He, Lin ^a  

^a SHANGHAI JIAO TONG UNIVERSITY   (China)

^b HUAIHUA MEDICAL COLLEGE   (China)

^c Shanghai Jiao Tong University Affiliated Sixth People s Hospital   (China)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; BLOOD SAMPLING; CHINESE; CLINICAL ARTICLE; CODON; CONTROLLED STUDY; DNA POLYMORPHISM; DSRAD GENE; DYSCHROMATOSIS SYMMETRICA HEREDITARIA; FEMALE; GENE; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; HUMAN; LETTER; NUCLEOTIDE SEQUENCE; PEDIGREE; PIGMENT DISORDER;

ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; CHINA; DNA MUTATIONAL ANALYSIS; FEMALE; FRAMESHIFT MUTATION; HUMANS; MALE; PEDIGREE; PIGMENTATION DISORDERS; SKIN;

EID: 34249813693     PISSN: 11671122     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Letter

References (5)

1. Miyamura Y, Suzuki T, Kono M, et al. Mutations of the RNA-specific adenosine deaminase gene (DSRAD) are involved in dyschromatosis symmetrica hereditaria. Am J Hum Genet 2003; 73: 693-9.
2. Zhang XJ, He PP, Li M, et al. Seven novel mutations of the ADAR gene in Chinese families and sporadic patients with dyschromatosis symmetrica hereditaria (DSH). Hum Mutat 2004; 23: 629-30.
3. Chao SC, Huang CY, Yang MH. A novel nonsense mutation of the DSRAD gene in a Taiwanese family with dyschromatosis symmetrica hereditaria. Eur J Dermatol 2006; 16: 449-50.
4. Rueter SM, Dawson TR, Emeson RB. Regulation of alternative splicing by RNA editing. Nature 1999; 399: 75-80.
5. O'Connell MA, Krause S, Higuchi M, et al. Cloning of cDNAs encoding mammalian double-stranded RNA-specific adenosine deaminase. Mol Cell Biol 1995; 15: 1389-97.