Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa

Experimental Dermatology

Volumn 17, Issue 7, 2008, Pages 533-568

  Dang, Ningning ^a,b,c   Murrell, Dédée F ^a,c  

^a ST GEORGE HOSPITAL   (Australia)

^b JINAN CENTRAL HOSPITAL AFFILIATED TO SHANDONG UNIVERSITY   (China)

^c UNIVERSITY OF NEW SOUTH WALES   (Australia)

Author keywords

COL7A1; Dystrophic epidermolysis bullosa; Mutation

Indexed keywords

COLLAGEN TYPE 7; COLLAGEN TYPE 7A1; COMPLEMENTARY DNA; GLYCINE; LENTIVIRUS VECTOR; METALLOPROTEINASE INHIBITOR; RETROVIRUS VECTOR;

ALLOGENEIC STEM CELL TRANSPLANTATION; AMINO ACID SUBSTITUTION; CELL BASED GENE THERAPY; CLUSTER ANALYSIS; CORRELATION ANALYSIS; DISEASE SEVERITY; DNA SPLICING; EPIDERMOLYSIS BULLOSA DYSTROPHICA; EXON; GENE DELETION; GENE IDENTIFICATION; GENE INSERTION; GENE THERAPY; GENETIC CORRELATION; GENETIC SCREENING; GENETIC VARIABILITY; HUMAN; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NONSENSE MUTATION; PHENOTYPE; PROTEIN STRUCTURE; REVIEW; TRIPLE HELIX; AMINO ACID SEQUENCE; CHEMISTRY; GENETICS; INHERITANCE; METABOLISM; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; SKIN;

AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; BASE SEQUENCE; COLLAGEN TYPE VII; DNA MUTATIONAL ANALYSIS; EPIDERMOLYSIS BULLOSA DYSTROPHICA; EXONS; GENE THERAPY; GLYCINE; HUMANS; INHERITANCE PATTERNS; MOLECULAR SEQUENCE DATA; MUTATION; PHENOTYPE; SKIN;

EID: 44949148069     PISSN: 09066705     EISSN: 16000625     Source Type: Journal    
DOI: 10.1111/j.1600-0625.2008.00723.x     Document Type: Review

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