Analysis of the IDS gene in 38 patients with Hunter syndrome: the c.879G>A (p.Gln293Gln) synonymous variation in a female create exonic splicing.
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Clinical and Genetic Characteristics of Romanian Patients with Mucopolysaccharidosis Type IIDeep Genotyping of the IDS Gene in Colombian Patients with Hunter Syndrome.Identification of a distinct mutation spectrum in the SMPD1 gene of Chinese patients with acid sphingomyelinase-deficient Niemann-Pick disease.Mucopolysaccharidosis Type II and the G374sp Mutation.Clinical, biochemical and molecular characteristics of Filipino patients with mucopolysaccharidosis type II - Hunter syndrome.Epidemiology of mucopolysaccharidoses.Genotype-phenotype correlation in 44 Czech, Slovak, Croatian and Serbian patients with mucopolysaccharidosis type II.When silence is noise: infantile-onset Barth syndrome caused by a synonymous substitution affecting TAZ gene transcription.A novel iduronate 2-sulfatase mutation in a Chinese family with mucopolysaccharidosis type II.Demographic characteristics and distribution of lysosomal storage disorder subtypes in Eastern China.
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P2860
Analysis of the IDS gene in 38 patients with Hunter syndrome: the c.879G>A (p.Gln293Gln) synonymous variation in a female create exonic splicing.
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2011 nî lūn-bûn
@nan
2011 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
name
Analysis of the IDS gene in 38 ...... female create exonic splicing.
@ast
Analysis of the IDS gene in 38 ...... female create exonic splicing.
@en
type
label
Analysis of the IDS gene in 38 ...... female create exonic splicing.
@ast
Analysis of the IDS gene in 38 ...... female create exonic splicing.
@en
prefLabel
Analysis of the IDS gene in 38 ...... female create exonic splicing.
@ast
Analysis of the IDS gene in 38 ...... female create exonic splicing.
@en
P2093
P2860
P1433
P1476
Analysis of the IDS gene in 38 ...... female create exonic splicing.
@en
P2093
Huiwen Zhang
Lianshu Han
Wenjuan Qiu
Xiaolan Gao
Xinshun Zhang
P2860
P304
P356
10.1371/JOURNAL.PONE.0022951
P407
P577
2011-08-04T00:00:00Z