Diversity of mutations and distribution of single nucleotide polymorphic alleles in the human alpha-L-iduronidase (IDUA) gene.
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Phenotype prediction for mucopolysaccharidosis type I by in silico analysisCan mucopolysaccharidosis type I disease severity be predicted based on a patient's genotype? A comprehensive review of the literature.Report of 5 novel mutations of the α-L-iduronidase gene and comparison of Korean mutations in relation with those of Japan or China in patients with mucopolysaccharidosis I.Genotypic and bioinformatic evaluation of the alpha-l-iduronidase gene and protein in patients with mucopolysaccharidosis type I from Colombia, Ecuador and Peru.Epidemiology of mucopolysaccharidoses.Two methods of whole-genome amplification enable accurate genotyping across a 2320-SNP linkage panel.Maternal mosaicism for IDUA deletion clarifies recurrence risk in MPS I.An algorithm to predict phenotypic severity in mucopolysaccharidosis type I in the first month of life.Mucopolysaccharidosis type I in 21 Czech and Slovak patients: mutation analysis suggests a functional importance of C-terminus of the IDUA protein.
P2860
Q33868804-758051C9-84B3-49C9-89E8-A084C20448ADQ35179027-17B6D54E-6F9E-404D-BFEF-9C70DE704A3FQ36103270-6459C131-4D26-4083-80B9-B44AFCC09683Q37434224-50DE2445-2575-478B-879D-B76D704A5879Q38735623-60688292-8CE8-4BF9-9824-6225CEBC3D18Q41276123-E2EEBB1E-B5D0-4793-BFEA-1D34BB2F0089Q41341712-BE41FEBC-6E65-4D0C-AE7E-4AC0AAF8C6CEQ42122146-E3B7C2AF-E472-4D26-BF03-39F6E3ACBEFFQ55412955-48E8092C-1912-4A58-911E-18C4E9F9204F
P2860
Diversity of mutations and distribution of single nucleotide polymorphic alleles in the human alpha-L-iduronidase (IDUA) gene.
description
2002 nî lūn-bûn
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2002年の論文
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2002年学术文章
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2002年学术文章
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2002年学术文章
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2002年学术文章
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name
Diversity of mutations and dis ...... pha-L-iduronidase (IDUA) gene.
@en
Diversity of mutations and dis ...... the human alpha-L-iduronidase
@nl
type
label
Diversity of mutations and dis ...... pha-L-iduronidase (IDUA) gene.
@en
Diversity of mutations and dis ...... the human alpha-L-iduronidase
@nl
prefLabel
Diversity of mutations and dis ...... pha-L-iduronidase (IDUA) gene.
@en
Diversity of mutations and dis ...... the human alpha-L-iduronidase
@nl
P2093
P2860
P1433
P1476
Diversity of mutations and dis ...... pha-L-iduronidase (IDUA) gene.
@en
P2093
Jerry N Thompson
Peining Li
P2860
P304
P356
10.1097/00125817-200211000-00004
P407
P577
2002-11-01T00:00:00Z
P5875
P6179
1034069949