Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis Bullosa, Distrophic

Human Genetics

Volumn 127, Issue 1, 2010, Pages 117-

  Cuadrado Corrales, Natividad ^a   Garcia M ^a   Escamez M J ^a   Sanchez Jimeno C ^a   Illera, N ^a   Lopez Martinez M A ^a   Trujillo Tiebas, M J ^a   Ayuso, C ^a   Del Rio M ^a  

^a CIEMAT   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; CASE REPORT; COL7A1 GENE; EPIDERMOLYSIS BULLOSA DYSTROPHICA; EXON; FEMALE; GENE; GENE DELETION; GENE IDENTIFICATION; GENE MUTATION; HUMAN; NOTE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SPAIN; ARTICLE; CODON; GENETICS; RECESSIVE GENE;

COLLAGEN TYPE 7;

ADOLESCENT; BASE SEQUENCE; CODON; COLLAGEN TYPE VII; EPIDERMOLYSIS BULLOSA DYSTROPHICA; FEMALE; GENES, RECESSIVE; HUMANS; SEQUENCE DELETION; SPAIN;

EID: 77449140746     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: None     Document Type: Note

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