Molecular diagnosis of mucopolysaccharidosis type II (Hunter syndrome) by automated sequencing and computer-assisted interpretation: toward mutation mapping of the iduronate-2-sulfatase gene
about
Germline and somatic mosaicism in a female carrier of Hunter diseaseGenomic features defining exonic variants that modulate splicing.Mucopolysaccharidoses in northern Brazil: Targeted mutation screening and urinary glycosaminoglycan excretion in patients undergoing enzyme replacement therapy.Molecular basis of iduronate-2-sulphatase gene mutations in patients with mucopolysaccharidosis type II (Hunter syndrome).Mucopolysaccharidosis type II (Hunter syndrome): mutation "hot spots" in the iduronate-2-sulfatase gene.Molecular genetic defect underlying alpha-L-iduronidase pseudodeficiency.Automated detection of point mutations using fluorescent sequence trace subtraction.Identification of 17 novel mutations in 40 Argentinean unrelated families with mucopolysaccharidosis type II (Hunter syndrome).
P2860
Q33678433-9C34A44F-1CCC-4497-9469-BF750760C7CCQ33861632-2C841C14-95E8-42B1-AA83-CEE8AE95ED9AQ34217712-D1B1A6EF-000D-4A21-A4B2-C4D6B391ECC7Q35571022-4ECEA7C5-F8F1-451C-8384-1AF2B412904EQ35882282-8F45D3BE-CA66-4515-8E42-F3412280D715Q35882400-0B43DAA3-BD26-4CF9-A329-7D796B795810Q39724486-6F521866-5DB3-4AAE-A0D5-5D281FC49B0EQ42131532-0181721C-F38F-4BC2-AC94-9B53C42750BA
P2860
Molecular diagnosis of mucopolysaccharidosis type II (Hunter syndrome) by automated sequencing and computer-assisted interpretation: toward mutation mapping of the iduronate-2-sulfatase gene
description
1995 nî lūn-bûn
@nan
1995 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
1995 թվականի մարտին հրատարակված գիտական հոդված
@hy
1995年の論文
@ja
1995年論文
@yue
1995年論文
@zh-hant
1995年論文
@zh-hk
1995年論文
@zh-mo
1995年論文
@zh-tw
1995年论文
@wuu
name
Molecular diagnosis of mucopol ...... the iduronate-2-sulfatase gene
@ast
Molecular diagnosis of mucopol ...... the iduronate-2-sulfatase gene
@en
Molecular diagnosis of mucopol ...... the iduronate-2-sulfatase gene
@nl
type
label
Molecular diagnosis of mucopol ...... the iduronate-2-sulfatase gene
@ast
Molecular diagnosis of mucopol ...... the iduronate-2-sulfatase gene
@en
Molecular diagnosis of mucopol ...... the iduronate-2-sulfatase gene
@nl
prefLabel
Molecular diagnosis of mucopol ...... the iduronate-2-sulfatase gene
@ast
Molecular diagnosis of mucopol ...... the iduronate-2-sulfatase gene
@en
Molecular diagnosis of mucopol ...... the iduronate-2-sulfatase gene
@nl
P2093
P2860
P1476
Molecular diagnosis of mucopol ...... the iduronate-2-sulfatase gene
@en
P2093
C B Whitley
E L Aronovich
J J Jonsson
P2860
P304
P407
P577
1995-03-01T00:00:00Z