Mucopolysaccharidosis Type I in 21 Czech and Slovak Patients: Mutation Analysis Suggests a Functional Importance of C-Terminus of the IDUA Protein

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F09%3A4690" target="_blank" >RIV/00216208:11110/09:4690 - isvavai.cz</a>

Alternative codes found

RIV/00064165:_____/09:4690

Result on the web

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DOI - Digital Object Identifier

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Result language

angličtina

Original language name

Mucopolysaccharidosis Type I in 21 Czech and Slovak Patients: Mutation Analysis Suggests a Functional Importance of C-Terminus of the IDUA Protein

Original language description

Mutation analysis of IDUA gene in 20 MPS I patients revealed 39 mutant alleles. Pathogenicity of the novel mutations was verified by transient expression studies. Haplotype analysis in Czech and Slovak population and in diagnosed patients was performed.Identified causative mutations in the 130 C-terminal amino acids indicate functional importance of the C-terminus of the IDUA protein.

Czech name

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Czech description

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Type

J_x - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

CEP classification

FB - Endocrinology, diabetology, metabolism, nutrition

OECD FORD branch

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Project

<a href="/en/project/1M0520" target="_blank" >1M0520: Center for Applied Genomics</a><br>

Continuities

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)<br>Z - Vyzkumny zamer (s odkazem do CEZ)

Publication year

2009

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

American Journal of Medical Genetics - Part A

ISSN

1552-4825

e-ISSN

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Volume of the periodical

149A

Issue of the periodical within the volume

5

Country of publishing house

US - UNITED STATES

Number of pages

10

Pages from-to

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UT code for WoS article

000265805900022

EID of the result in the Scopus database

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