Mucopolysaccharidosis type VI: A predominantly cardiac...

American Journal of Medical Genetics Part A 2013 / 06 Vol. 161; Iss. 6

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

Jurecka, Agnieszka, Zakharova, Ekaterina, Cimbalistiene, Loreta, Gusina, Nina, Kulpanovich, Anna, Golda, Adam, Opoka-Winiarska, Violetta, Piotrowska, Ewa, Voskoboeva, Elena, Tylki-Szymańska, Anna
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Volume:
161
Language:
english
Journal:
American Journal of Medical Genetics Part A
DOI:
10.1002/ajmg.a.35905
Date:
June, 2013
File:
PDF, 205 KB
english, 2013
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