Mucopolysaccharidosis type VII: characterization of mutations and molecular heterogeneity
about
Clinical course of sly syndrome (mucopolysaccharidosis type VII)Mutational analysis of a patient with mucopolysaccharidosis type VII, and identification of pseudogenesMolecular analysis of patients with beta-glucuronidase deficiency presenting as hydrops fetalis or as early mucopolysaccharidosis VIIMesenchymal stem cells for treating ocular surface diseasesComplex repetitive arrangements of gene sequence in the candidate region of the spinal muscular atrophy gene in 5q13Dietary and demographic correlates of serum beta-glucuronidase activity.Missense models [Gustm(E536A)Sly, Gustm(E536Q)Sly, and Gustm(L175F)Sly] of murine mucopolysaccharidosis type VII produced by targeted mutagenesis.Chondroitin 6-Sulfate as a Novel Biomarker for Mucopolysaccharidosis IVA and VII.Mutations and polymorphisms in GUSB gene in mucopolysaccharidosis VII (Sly Syndrome).Production of MPS VII mouse (Gus(tm(hE540A x mE536A)Sly)) doubly tolerant to human and mouse beta-glucuronidaseHigh resolution crystal structure of human β-glucuronidase reveals structural basis of lysosome targeting.Epidemiology of mucopolysaccharidoses.
P2860
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P2860
Mucopolysaccharidosis type VII: characterization of mutations and molecular heterogeneity
description
1991 nî lūn-bûn
@nan
1991 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
1991 թվականի հունվարին հրատարակված գիտական հոդված
@hy
1991年の論文
@ja
1991年論文
@yue
1991年論文
@zh-hant
1991年論文
@zh-hk
1991年論文
@zh-mo
1991年論文
@zh-tw
1991年论文
@wuu
name
Mucopolysaccharidosis type VII: characterization of mutations and molecular heterogeneity
@ast
Mucopolysaccharidosis type VII: characterization of mutations and molecular heterogeneity
@en
Mucopolysaccharidosis type VII: characterization of mutations and molecular heterogeneity
@nl
type
label
Mucopolysaccharidosis type VII: characterization of mutations and molecular heterogeneity
@ast
Mucopolysaccharidosis type VII: characterization of mutations and molecular heterogeneity
@en
Mucopolysaccharidosis type VII: characterization of mutations and molecular heterogeneity
@nl
prefLabel
Mucopolysaccharidosis type VII: characterization of mutations and molecular heterogeneity
@ast
Mucopolysaccharidosis type VII: characterization of mutations and molecular heterogeneity
@en
Mucopolysaccharidosis type VII: characterization of mutations and molecular heterogeneity
@nl
P2093
P2860
P1476
Mucopolysaccharidosis type VII: characterization of mutations and molecular heterogeneity
@en
P2093
K Sukegawa
S Yamaguchi
T Kuwahara
P2860
P407
P577
1991-01-01T00:00:00Z