A novel missense mutation in DSRAD in a family with dyschromatosis symmetrica hereditaria

Archives of Dermatological Research

Volumn 299, Issue 5-6, 2007, Pages 273-275

  Li, Ming ^a,b   Yang, Li Jia ^a,b   Shi, Yi Xin ^c   Huang, Hong Yu ^b  

^a NANJING MEDICAL UNIVERSITY   (China)

^b WUXI NO 2 PEOPLE S HOSPITAL   (China)

^c BEIHANG UNIVERSITY   (China)

Author keywords

DSRAD gene; Dyschromatosis symmetrica hereditaria (DSH); Mutation analysis

Indexed keywords

DEAMINASE; DSRAD PROTEIN; PROTEIN DERIVATIVE; UNCLASSIFIED DRUG;

ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CHINESE; DATA BASE; DYSCHROMATOSIS SYMMETRICA HEREDITARIA; EXON; FEMALE; GENE MUTATION; GENETIC IDENTIFICATION; HETEROZYGOSITY; HUMAN; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PATHOGENICITY; PEDIGREE; PRIORITY JOURNAL; PROTEIN DOMAIN; SKIN DISEASE;

ADENOSINE DEAMINASE; AMINO ACID SUBSTITUTION; ARGININE; CHILD; CHINA; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; HISTIDINE; HUMANS; MUTATION, MISSENSE; PEDIGREE; PIGMENTATION DISORDERS;

EID: 34547682305     PISSN: 03403696     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00403-007-0762-9     Document Type: Article

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