Open AccessCLINICAL AND GENETIC CHARACTERISTICS OF MUCOLIPIDOSIS II AND IIIA TYPES IN CHILDREN
Author(s) -
А. Н. Семячкина,
Е. Ю. Воскобоева,
Т. М. Букина,
А. Н. Букина,
Е. А. Николаева,
И. С. Данцев,
М. Н. Харабадзе,
Ю. И. Давыдова
Publication year - 2017
Publication title -
rossijskij vestnik perinatologii i pediatrii
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.139
H-Index - 4
eISSN - 2500-2228
pISSN - 1027-4065
DOI - 10.21508/1027-4065-2017-62-3-71-78
Subject(s) - mucolipidosis , lysosomal storage disease , mucopolysaccharidosis , sanger sequencing , proband , exon , genotype , microbiology and biotechnology , biology , allelic heterogeneity , mutation , allele , genetics , medicine , gene , disease , enzyme , biochemistry