Effect of Hunter disease (mucopolysaccharidosis type II) mutations on molecular phenotypes of iduronate-2-sulfatase: enzymatic activity, protein processing and structural analysis.
about
Insights into Hunter syndrome from the structure of iduronate-2-sulfataseAnalysis of the IDS gene in 38 patients with Hunter syndrome: the c.879G>A (p.Gln293Gln) synonymous variation in a female create exonic splicing.Deep Genotyping of the IDS Gene in Colombian Patients with Hunter Syndrome.A study of the relationship between clinical phenotypes and plasma iduronate-2-sulfatase enzyme activities in Hunter syndrome patients.Structural Basis of Mucopolysaccharidosis Type II and Construction of a Database of Mutant Iduronate 2-Sulfatases.Genotype-phenotype relationship in mucopolysaccharidosis II: predictive power of IDS variants for the neuronopathic phenotype.SAAMP 2.0: an algorithm to predict genotype-phenotype correlation of lysosomal storage diseases.Decreasing Activity and Altered Protein Processing of Human Iduronate-2-sulfatase Mutations Demonstrated by Expression in COS7 CellsMolecular analysis of the iduronate-2-sulfatase gene in Thai patients with Hunter syndrome
P2860
Q33804689-DAB295EA-36F2-4151-802A-E9267F78C18AQ33988642-0C037876-4D13-47A9-ABA9-780B5A237460Q35848742-05E135E8-E769-4E8F-85C5-FC70AD65B77EQ35861337-1C132AB9-D241-4D98-9827-38BBFDC65B0FQ36151165-C3D08911-2D24-40D5-BAF0-603594088988Q47364481-F099873F-8B22-4B47-93D7-3A67303252DAQ48111481-2BAB7E60-1DA7-43D0-8452-87B673BA245EQ57697883-5C79C8A0-9D8B-4BA4-B637-2914FEF3F3B0Q57697933-AF897A87-FA3A-418B-8EAC-07E70DCBD854
P2860
Effect of Hunter disease (mucopolysaccharidosis type II) mutations on molecular phenotypes of iduronate-2-sulfatase: enzymatic activity, protein processing and structural analysis.
description
2006 nî lūn-bûn
@nan
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
2006年论文
@zh
2006年论文
@zh-cn
name
Effect of Hunter disease (muco ...... ssing and structural analysis.
@en
type
label
Effect of Hunter disease (muco ...... ssing and structural analysis.
@en
prefLabel
Effect of Hunter disease (muco ...... ssing and structural analysis.
@en
P2093
P1476
Effect of Hunter disease (muco ...... ssing and structural analysis.
@en
P2093
Nakamura H
Sukegawa-Hayasaka K
P2860
P2888
P304
P356
10.1007/S10545-006-0440-7
P577
2006-11-07T00:00:00Z
P6179
1033123346