Mutations in the LMNA gene do not cause axonal CMT in Czech patients

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064203%3A_____%2F09%3A5433" target="_blank" >RIV/00064203:_____/09:5433 - isvavai.cz</a>

Alternative codes found

RIV/00216208:11130/09:5433

Result on the web

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DOI - Digital Object Identifier

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Result language

angličtina

Original language name

Mutations in the LMNA gene do not cause axonal CMT in Czech patients

Original language description

In Czech patients with axonal type of CMT we have not found pathogenic, causal mutations in the LMNA gene, therefore we conclude, that LMNA mutations are not relevant cause of CMT2 in Czech patients.

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

EB - Genetics and molecular biology

OECD FORD branch

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Project

<a href="/en/project/NR8330" target="_blank" >NR8330: Lamin A/C gene (LMNA) analysis in patients and families with autosomal recessive, axonal type of inherited neuropathy Charcot-Marie-Tooth (AR CMT2).</a><br>

Continuities

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Publication year

2009

Confidentiality

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

Name of the periodical

Journal of Human Genetics

ISSN

1434-5161

e-ISSN

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Volume of the periodical

54

Issue of the periodical within the volume

6

Country of publishing house

JP - JAPAN

Number of pages

4

Pages from-to

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UT code for WoS article

000268312700010

EID of the result in the Scopus database

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