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Volumn 23, Issue 6, 2013, Pages 782-785
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Two novel mutations in the DSRAD gene in two Chinese pedigrees with dyschromatosis symmetrica hereditaria
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Author keywords
Double stranded RNA specific adenosine deaminase; Dyschromatosis symmetrica hereditaria; Genetic mutation
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Indexed keywords
ADULT;
ARTICLE;
CLINICAL ARTICLE;
CLINICAL FEATURE;
DNA SCREENING;
DOUBLE STRANDED RNA SPECIFIC ADENOSINE DEAMINASE GENE;
DYSCHROMATOSIS SYMMETRICA HEREDITARIA;
EXON;
FEMALE;
GENE;
GENE MUTATION;
GENETIC POLYMORPHISM;
GENOTYPE PHENOTYPE CORRELATION;
HUMAN;
MALE;
MUTATIONAL ANALYSIS;
NUCLEAR EXPORT SIGNAL;
NUCLEOTIDE SEQUENCE;
PEDIGREE ANALYSIS;
PIGMENT DISORDER;
POLYMERASE CHAIN REACTION SYSTEM;
CHINA;
GENETICS;
MISSENSE MUTATION;
PEDIGREE;
PIGMENTATION DISORDERS;
ADENOSINE DEAMINASE;
DOUBLE-STRANDED RNA-SPECIFIC ADENOSINE DEAMINASE, HUMAN;
RNA BINDING PROTEIN;
ADENOSINE DEAMINASE;
ADULT;
CHINA;
DNA MUTATIONAL ANALYSIS;
FEMALE;
HUMANS;
MALE;
MUTATION, MISSENSE;
PEDIGREE;
PIGMENTATION DISORDERS;
RNA-BINDING PROTEINS;
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EID: 84893336828
PISSN: 11671122
EISSN: 19524013
Source Type: Journal
DOI: 10.1684/ejd.2013.2236 Document Type: Article |
Times cited : (2)
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References (7)
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