Molecular epidemiology of junctional epidermolysis bullosa: discovery of novel and frequent LAMB3 mutations in Chilean patients with diagnostic significance

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Bibliographic Details
Published inBritish journal of dermatology (1951) Vol. 176; no. 4; pp. 1090 - 1092
Main Authors Fuentes, I., Campos, M., Repetto, G., Morandé, P., Yubero, M.J., Gonzalez, S., Klausegger, A., Schnitzhofer, P., Pohla‐Gubo, G., Bauer, J., Palisson, F.
Format Journal Article
LanguageEnglish
Published England Oxford University Press 01.04.2017
Subjects
Adolescent
Adult
Cell Adhesion Molecules - genetics
Child
Child, Preschool
Chile - ethnology
Epidermolysis bullosa
Epidermolysis Bullosa, Junctional - epidemiology
Epidermolysis Bullosa, Junctional - genetics
Female
Genotype
Humans
Infant
Infant, Newborn
Junctional epidermolysis bullosa
Kalinin
Male
Medical diagnosis
Molecular Epidemiology
Mutation
Mutation - genetics
Prevalence
Young Adult
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Bibliography:SourceType-Other Sources-1
ObjectType-Article-2
content type line 63
ObjectType-Correspondence-1
ISSN:0007-0963
1365-2133
DOI:10.1111/bjd.14920