The first COL7A1 mutation survey in a large Spanish dystrophic epidermolysis bullosa cohort: C.6527insC disclosed as an unusually recurrent mutation

British Journal of Dermatology

Volumn 163, Issue 1, 2010, Pages 155-161

  Escamez M J ^a   Garcia M ^a   Cuadrado Corrales, N ^a   Llames, S G ^b   Charlesworth, A ^c   De Luca, N ^d   Illera, N ^a   Sanchez Jimeno C ^a   Holguin A ^a   Duarte, B ^a   Trujillo Tiebas, M J ^b   Vicario, J L ^e   Santiago, J L ^f   Hernandez Martin A ^g   Torrelo, A ^g   Castiglia, D ^d   Ayuso, C ^b   Larcher, F ^a   Jorcano, J L ^a   Meana, A ^b   Meneguzzi, G ^c   Zambruno, G ^d   Del Rio, M ^a   more..

^a CIEMAT   (Spain)

^b CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^c INSERM   (France)

^d LABORATORIO DI PATOLOGIA VASCOLARE   (Italy)

^e CIEMAT ^*  (Spain)

^f HOSPITAL GENERAL UNIVERSITARIO DE CIUDAD REAL   (Spain)

^g HOSPITAL INFANTIL UNIVERSITARIO NIÑO JESÚS   (Spain)

Author keywords

COL7A1; rare skin diseases; recurrent mutations; skin blistering

Indexed keywords

COLLAGEN TYPE 7; GENOMIC DNA; MESSENGER RNA;

ALLELE; AMINO ACID SEQUENCE; ARTICLE; CLINICAL ARTICLE; COHORT ANALYSIS; EPIDERMOLYSIS BULLOSA DYSTROPHICA; GENE MUTATION; GENE SEQUENCE; GENOTYPE; HUMAN; HUMAN TISSUE; INDEL MUTATION; MISSENSE MUTATION; NONSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL; RACE; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SKIN BIOPSY; SPANISH;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; COLLAGEN TYPE VII; DNA MUTATIONAL ANALYSIS; EPIDERMOLYSIS BULLOSA DYSTROPHICA; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INFANT; MUTATION; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SEVERITY OF ILLNESS INDEX; SPAIN; YOUNG ADULT;

EID: 77954023807     PISSN: 00070963     EISSN: 13652133     Source Type: Journal    
DOI: 10.1111/j.1365-2133.2010.09713.x     Document Type: Article

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