Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064203%3A_____%2F10%3A6057" target="_blank" >RIV/00064203:_____/10:6057 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11130/10:6057
Result on the web
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DOI - Digital Object Identifier
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Alternative languages
Result language
angličtina
Original language name
Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis
Original language description
Heterozygous coding mutations in the INS gene that encodes preproinsulin were recently shown to be an important cause of permanent neonatal diabetes. We now report 10 different recessive INS mutations in 15 probands with neonatal diabetes. Mutations in the insulin gene can therefore result in neonatal diabetes by two contrasting pathogenic mechanisms.
Czech name
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Czech description
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Classification
Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
FB - Endocrinology, diabetology, metabolism, nutrition
OECD FORD branch
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Result continuities
Project
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Continuities
Z - Vyzkumny zamer (s odkazem do CEZ)
Others
Publication year
2010
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Proceedings of the National Academy of Sciences of the United States of America
ISSN
0027-8424
e-ISSN
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Volume of the periodical
107
Issue of the periodical within the volume
7
Country of publishing house
US - UNITED STATES
Number of pages
6
Pages from-to
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UT code for WoS article
000274599500072
EID of the result in the Scopus database
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