Mucopolysaccharidosis type VI: a predominantly cardiac phenotype associated with homozygosity for p.R152W mutation in the ARSB gene

Agnieszka Jurecka , Ekaterina Zakharova , Loreta Cimbalistiene , Nina Gusina , Anna Kulpanovich , Adam Golda , Violetta Opoka-Winiarska , Ewa Piotrowska , Elena Voskoboeva , Anna Tylki-Szymańska

Abstract

n/a
Author Agnieszka Jurecka (FB / DGB)
Agnieszka Jurecka,,
- Katedra Genetyki i Biosystematyki
, Ekaterina Zakharova
Ekaterina Zakharova,,
-
, Loreta Cimbalistiene
Loreta Cimbalistiene,,
-
, Nina Gusina
Nina Gusina,,
-
, Anna Kulpanovich
Anna Kulpanovich,,
-
, Adam Golda
Adam Golda,,
-
, Violetta Opoka-Winiarska
Violetta Opoka-Winiarska,,
-
, Ewa Piotrowska (FB / DMoB)
Ewa Piotrowska,,
- Department of Molecular Biology
, Elena Voskoboeva
Elena Voskoboeva,,
-
, Anna Tylki-Szymańska
Anna Tylki-Szymańska,,
-
Journal seriesAmerican Journal of Medical Genetics Part A, ISSN 1552-4825, (A 20 pkt)
Issue year2013
Vol161
No6
Pages1291-1299
Keywords in EnglishMaroteaux-Lamy syndrome, attenuated phenotype, genotype-phenotype analysis, cardiac variant, cardiac valve disease
DOIDOI:10.1002/ajmg.a.35905
URL http://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.35905/pdf
Languageen angielski
Score (nominal)20
ScoreMinisterial score = 20.0, 21-12-2017, ArticleFromJournal
Ministerial score (2013-2016) = 20.0, 21-12-2017, ArticleFromJournal
Publication indicators WoS Impact Factor: 2013 = 2.048 (2) - 2013=2.305 (5)
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