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Volumn 10, Issue 10, 2014, Pages 2567-2577
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In silico analysis of all point mutations on the 2B domain of K5/K14 causing epidermolysis bullosa simplex: A genotype-phenotype correlation
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Author keywords
[No Author keywords available]
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Indexed keywords
CYTOKERATIN 14;
CYTOKERATIN 5;
ALLELE;
AMINO ACID SEQUENCE;
AMINO ACID SUBSTITUTION;
BIOLOGY;
CHEMICAL STRUCTURE;
CHEMISTRY;
EPIDERMOLYSIS BULLOSA SIMPLEX;
GENETIC ASSOCIATION;
GENETICS;
HUMAN;
METABOLISM;
MOLECULAR GENETICS;
PATHOLOGY;
PHENOTYPE;
POINT MUTATION;
PROCEDURES;
PROTEIN CONFORMATION;
PROTEIN DOMAIN;
PROTEIN MULTIMERIZATION;
SEVERITY OF ILLNESS INDEX;
SINGLE NUCLEOTIDE POLYMORPHISM;
SKIN;
ALLELES;
AMINO ACID SEQUENCE;
AMINO ACID SUBSTITUTION;
COMPUTATIONAL BIOLOGY;
EPIDERMOLYSIS BULLOSA SIMPLEX;
GENETIC ASSOCIATION STUDIES;
HUMANS;
KERATIN-14;
KERATIN-5;
MODELS, MOLECULAR;
MOLECULAR SEQUENCE DATA;
PHENOTYPE;
POINT MUTATION;
POLYMORPHISM, SINGLE NUCLEOTIDE;
PROTEIN CONFORMATION;
PROTEIN INTERACTION DOMAINS AND MOTIFS;
PROTEIN MULTIMERIZATION;
SEVERITY OF ILLNESS INDEX;
SKIN;
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EID: 84907027897
PISSN: 1742206X
EISSN: 17422051
Source Type: Journal
DOI: 10.1039/c4mb00138a Document Type: Article |
Times cited : (16)
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References (19)
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