Genotype-phenotype correlation in non-Hallopeau-Siemens recessive dystrophic epidermolysis bullosa: The splice site mutation c.6216 + 5G > T in the COL7A1 gene results in aberrant and normal splicings

Journal of Dermatological Science

Volumn 50, Issue 2, 2008, Pages 147-150

  Hamada, Takahiro ^a   Fukuda, Shunpei ^a   Ishii, Norito ^a   Sakaguchi, Sachiko ^a   Ishikawa, Takako ^a   Abe, Toshifumi ^a   Yasumoto, Shinichiro ^a   Hashimoto, Takashi ^a   Nakano, Hajime ^b   Sawamura, Daisuke ^b  

^a KURUME UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b HIROSAKI UNIVERSITY   (Japan)

Author keywords

Anchoring fibrils; Genodermatosis; Premature termination codon; Type VII collagen

Indexed keywords

COLLAGEN TYPE 7; GENOMIC DNA; RNA;

ADULT; ANAMNESIS; BLISTER; CASE REPORT; CLINICAL FEATURE; COL7A1 GENE; DERMOEPIDERMAL JUNCTION; EPIDERMOLYSIS BULLOSA DYSTROPHICA; EROSION; EXON; FEMALE; GEL ELECTROPHORESIS; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC TRANSCRIPTION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; IMMUNOFLUORESCENCE; INFORMED CONSENT; LETTER; NAIL DYSTROPHY; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA ANALYSIS; SEQUENCE ANALYSIS; SKIN INJURY;

ADULT; ALTERNATIVE SPLICING; CODON, NONSENSE; COLLAGEN TYPE VII; DNA MUTATIONAL ANALYSIS; EPIDERMOLYSIS BULLOSA DYSTROPHICA; FEMALE; GENOTYPE; GUANINE; HUMANS; PHENOTYPE; RNA SPLICE SITES; THYMINE;

EID: 41149159657     PISSN: 09231811     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jdermsci.2007.12.005     Document Type: Letter

References (5)

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