Novel mutations in the NF1 gene in Czech patients with neurofibromatosis type 1

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064203%3A_____%2F07%3A1599" target="_blank" >RIV/00064203:_____/07:1599 - isvavai.cz</a>

Alternative codes found

RIV/00216208:11130/07:1599

Result on the web

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DOI - Digital Object Identifier

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Result language

angličtina

Original language name

Novel mutations in the NF1 gene in Czech patients with neurofibromatosis type 1

Original language description

Neurofibromatosis type 1 (NF1) is one of the most common inherited human disorders, with an estimated incidence of 1 per 3500 births. In most cases, the disease is caused either by mutation in the NF1 gene, or by a particular or complete deletion of the

Czech name

Nové mutace NF 1 genu v souboru pacientů z České republiky

Czech description

Neurofibromatóza typu 1 (NF1) je jedno z nejčastějších dědičných onemocnění s výskytem 1 : 3500 narozených dětí.

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

Result was created during the realization of more than one project. More information in the Projects tab.

Continuities

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

Publication year

2007

Confidentiality

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

Name of the periodical

Journal of molecular neuroscience

ISSN

0895-8696

e-ISSN

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Volume of the periodical

31

Issue of the periodical within the volume

3

Country of publishing house

US - UNITED STATES

Number of pages

7

Pages from-to

273-279

UT code for WoS article

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EID of the result in the Scopus database

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