Two novel mutations of the ADAR1 gene in Chinese patients with dyschromatosis symmetrica hereditaria

Indian Journal of Dermatology, Venereology and Leprology

Volumn 78, Issue 6, 2012, Pages 746-748

  Yuan, Chunying ^a,c   Liu, Hong ^a,c   Fu, Xi'An ^a,c   Yu, Yongxiang ^a,c   Yu, Gongqi ^a,c   Bao, Fangfang ^a,c   Lu, Nan ^a,c   Li, Jinghui ^a,c   Liu, Jian ^a,c   Tian, Hongqing ^b,d   Zhang, Furen ^a,b,c,d  

^a Provincial Academy of Medical Science   (China)

^b SHANDONG UNIVERSITY   (China)

^c Shandong Provincial Key Lab for Dermatovenereology   (China)

^d Shandong Provincial Medical Center for Dermatovenereology   (China)

Author keywords

[No Author keywords available]

Indexed keywords

ADAR1 PROTEIN; ADENOSINE DEAMINASE; UNCLASSIFIED DRUG;

CASE REPORT; CHINESE; CODON; CONTROLLED STUDY; DNA DETERMINATION; DNA EXTRACTION; DYSCHROMATOSIS SYMMETRICA HEREDITARIA; EXON; FAMILY HISTORY; GENE MUTATION; GENETIC DISORDER; HUMAN; HYPERPIGMENTATION; HYPOPIGMENTATION; LETTER; NUCLEOTIDE SEQUENCE; PIGMENT DISORDER; POLYMERASE CHAIN REACTION;

ADENOSINE DEAMINASE; ASIAN CONTINENTAL ANCESTRY GROUP; CASE-CONTROL STUDIES; CHINA; CODON, NONSENSE; EXONS; FRAMESHIFT MUTATION; HUMANS; MUTATION, MISSENSE; PIGMENTATION DISORDERS;

EID: 84870173669     PISSN: 03786323     EISSN: 09733922     Source Type: Journal    
DOI: 10.4103/0378-6323.102375     Document Type: Letter

References (4)

1. Miyamura Y, Suzuki T, Kono M, Inagaki K, Ito S, Suzuki N, 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. Li CR, Li M, Ma HJ, Luo D, Yang LJ, Wang DG, et al. A new arginine substitution mutation of DSRAD gene in a Chinese family with dyschromatosis symmetrica hereditaria. J Dermatol Sci 2005;37:95-9.
3. Song J, Zhou H, Lu RQ, Zhang L P, Sun H. The c.3463C>T mutation of the ADAR1 gene in patients with dyschromatosis symmetrical hereditaria. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2010;27:576-8.
4. Li M, Yang L, Li C, Jin C, Lai M, Zhang G, et al. Mutational spectrum of the ADAR1 gene in dyschromatosis symmetrica hereditaria. Arch Dermatol Res 2010;302:469-76.