Detection of point mutations and a gross deletion in six Hunter syndrome patients
about
Molecular diagnosis of mucopolysaccharidosis type II (Hunter syndrome) by automated sequencing and computer-assisted interpretation: toward mutation mapping of the iduronate-2-sulfatase geneClinical and Genetic Characteristics of Romanian Patients with Mucopolysaccharidosis Type IIGenomic features defining exonic variants that modulate splicing.Deletion Xq27.3q28 in female patient with global developmental delays and skewed X-inactivation.Molecular analysis of iduronate -2- sulfatase gene in Tunisian patients with mucopolysaccharidosis type IIMutation analysis in 57 unrelated patients with MPS II (Hunter's disease)Clinical, biochemical and molecular characteristics of Filipino patients with mucopolysaccharidosis type II - Hunter syndrome.Identification of 17 novel mutations in 40 Argentinean unrelated families with mucopolysaccharidosis type II (Hunter syndrome).Identification of 11 novel mutations in 49 Korean patients with mucopolysaccharidosis type II.
P2860
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P2860
Detection of point mutations and a gross deletion in six Hunter syndrome patients
description
1992 nî lūn-bûn
@nan
1992 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
1992 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
1992年の論文
@ja
1992年論文
@yue
1992年論文
@zh-hant
1992年論文
@zh-hk
1992年論文
@zh-mo
1992年論文
@zh-tw
1992年论文
@wuu
name
Detection of point mutations and a gross deletion in six Hunter syndrome patients
@ast
Detection of point mutations and a gross deletion in six Hunter syndrome patients
@en
Detection of point mutations and a gross deletion in six Hunter syndrome patients
@nl
type
label
Detection of point mutations and a gross deletion in six Hunter syndrome patients
@ast
Detection of point mutations and a gross deletion in six Hunter syndrome patients
@en
Detection of point mutations and a gross deletion in six Hunter syndrome patients
@nl
prefLabel
Detection of point mutations and a gross deletion in six Hunter syndrome patients
@ast
Detection of point mutations and a gross deletion in six Hunter syndrome patients
@en
Detection of point mutations and a gross deletion in six Hunter syndrome patients
@nl
P2093
P1433
P1476
Detection of point mutations and a gross deletion in six Hunter syndrome patients
@en
P2093
D R Bentley
F Giannelli
R H Flomen
P304
P356
10.1016/0888-7543(92)90123-A
P407
P577
1992-07-01T00:00:00Z