Two novel recessive mutations in KRT14 identified in a cohort of 21 Spanish families with epidermolysis bullosa simplex

British Journal of Dermatology

Volumn 165, Issue 3, 2011, Pages 683-692

  Garcia M ^b,k   Santiago, J L ^c   Terron A ^d   Hernandez Martin A ^e   Vicente, A ^f   Fortuny, C ^f   De Lucas, R ^g   Lopez J C ^g   Cuadrado Corrales, N ^a,b   Holguin A ^a,b   Illera, N ^a,b   Duarte, B ^a,b   Sanchez Jimeno C ^a,b   Llames, S ^b,h   Garcia E ^b,h   Ayuso, C ^b,i   Martinez Santamaria L ^a   Castiglia, D ^j   De Luca, N ^j   Torrelo, A ^e   Mechan, D ^d   Baty, D ^d   Zambruno, G ^j   Escamez M J ^a,k   Del Rio M ^a,k   more..

^a CIEMAT   (Spain)

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

^c UNIVERSITY OF CASTILLA LA MANCHA   (Spain)

^d NINEWELLS HOSPITAL   (United Kingdom)

^e HOSPITAL INFANTIL UNIVERSITARIO NIÑO JESÚS   (Spain)

^f UNIVERSITY OF BARCELONA   (Spain)

^g HOSPITAL UNIVERSITARIO LA PAZ   (Spain)

^h Centro Comunitario de Sangre y Tejidos Del Principado de Asturias (CCST)   (Spain)

ⁱ Grupo de Trabajo Ecografía SoMaMFyC   (Spain)

^j LABORATORIO DI PATOLOGIA VASCOLARE   (Italy)

^k UNIVERSIDAD CARLOS III DE MADRID   (Spain)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA6 INTEGRIN; BETA4 INTEGRIN; COLLAGEN TYPE 4; COLLAGEN TYPE 7; CYTOKERATIN 14; CYTOKERATIN 5; KALININ;

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; CONSANGUINITY; DERMOEPIDERMAL JUNCTION; DNA SEQUENCE; EPIDERMOLYSIS BULLOSA SIMPLEX; GENE SEQUENCE; GENOTYPE PHENOTYPE CORRELATION; HUMAN; IMMUNOFLUORESCENCE; MISSENSE MUTATION; MUTATION; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; RECESSIVE MUTATION; SKIN BIOPSY;

ADOLESCENT; ADULT; CHILD, PRESCHOOL; COHORT STUDIES; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; EPIDERMOLYSIS BULLOSA SIMPLEX; FEMALE; HOMOZYGOTE; HUMANS; INFANT; KERATIN-14; KERATIN-5; MALE; MUTATION, MISSENSE; PEDIGREE; SPAIN; YOUNG ADULT;

EID: 80052217023     PISSN: 00070963     EISSN: 13652133     Source Type: Journal    
DOI: 10.1111/j.1365-2133.2011.10428.x     Document Type: Article

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