Frameshift mutations in the insulin gene leading to prolonged molecule of insulin in two families with Maturity-Onset Diabetes of the Young

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00023761%3A_____%2F15%3A%230000521" target="_blank" >RIV/00023761:_____/15:#0000521 - isvavai.cz</a>

Alternative codes found

RIV/00216208:11130/15:10294936 RIV/00216208:11120/15:43909655 RIV/00064203:_____/15:10294936

Result on the web

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DOI - Digital Object Identifier

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Result language

angličtina

Original language name

Frameshift mutations in the insulin gene leading to prolonged molecule of insulin in two families with Maturity-Onset Diabetes of the Young

Original language description

Mutations in the insulin (INS) gene rarely occur in patients with Maturity-Onset Diabetes of the Young (MODY). We aimed to describe in detail two MODY families with INS mutations. The INS gene was screened by direct sequencing.

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/NT11402" target="_blank" >NT11402: Genetic investigation of monogenic diabetes in the Czech Republic: Evaluation of clinical symptoms, treatment and quality of life</a><br>

Continuities

N - Vyzkumna aktivita podporovana z neverejnych zdroju

Publication year

2015

Confidentiality

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

Name of the periodical

European Journal of Medical Genetics

ISSN

1769-7212

e-ISSN

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Volume of the periodical

58

Issue of the periodical within the volume

4

Country of publishing house

NL - THE KINGDOM OF THE NETHERLANDS

Number of pages

5

Pages from-to

230-234

UT code for WoS article

000353995500006

EID of the result in the Scopus database

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