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  4. Epidermolysis Bullosa Simplex with KLHL24 Mutations Is Associated with Dilated Cardiomyopathy
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Epidermolysis Bullosa Simplex with KLHL24 Mutations Is Associated with Dilated Cardiomyopathy

Journal
Journal of Investigative Dermatology
ISSN
0022-202X
Date Issued
2019
Author(s)
Agnes Schwieger-Briel
FUENTES BUSTOS, MARIA IGNACIA  
Facultad de Medicina Clínica Alemana Universidad del Desarrollo  
Daniele Castiglia
Antonio Barbato
Matthias Greutmann
Juna Leppert
Sabine Duchatelet
Alain Hovnanian
Sofia Burattini
M. Joao Yubero
Rodrigo Ibañez-Arenas
Boris Rebolledo-Jaramillo  
Christoph Gräni
Hagen Ott
Martin Theiler
Lisa Weibel
Amy S. Paller
Giovanna Zambruno
Judith Fischer
Francis Palisson  
Cristina Has
Type
Resource Types::text::journal::journal article
Scopus ID
2-s2.0-85055018369
WoS ID
WOS:000453778200033
DOI
10.1016/j.jid.2018.07.022
URL
https://investigadores.udd.cl/handle/123456789/3573
URL Institutional Repository
http://hdl.handle.net/11447/3201
Project(s)
"Fortalecimiento y desarrollo de la investigación biomédica mediante la adquisición de un cluster computacional"  
Subjects
heart

; 

adolescent

; 

adult

; 

cardiomyopathy, dilated

; 

child

; 

dna

; 

dna mutational analysis

; 

epidermolysis bullosa simplex

; 

female

; 

humans

; 

male

; 

middle aged

; 

mutation

; 

pedigree

; 

repressor proteins

; 

young adult

; 

amino terminal pro brain natriuretic peptide

; 

biological marker

; 

creatine kinase

; 

klhl24 protein

; 

protein

; 

unclassified drug

; 

dna

; 

kelch-like protein 24, human

; 

repressor protein

; 

adolescent

; 

adult

; 

article

; 

cardiovascular magnetic resonance

; 

child

; 

clinical article

; 

cohort analysis

; 

congestive cardiomyopathy

; 

coronary artery disease

; 

creatine kinase blood level

; 

disease association

; 

echocardiography

; 

epidermolysis bullosa simplex

; 

female

; 

gain of function mutation

; 

genetic association

; 

heart left ventricle ejection fraction

; 

human

; 

male

; 

photography

; 

preschool child

; 

priority journal

; 

protein expression

; 

school child

; 

complication

; 

congestive cardiomyopathy

; 

dna mutational analysis

; 

epidermolysis bullosa simplex

; 

genetics

; 

metabolism

; 

middle aged

; 

mutation

; 

pedigree

; 

young adult
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