COL1A2 gene analysis in a Czech osteogenesis imperfecta patient: a candidate novel mutation in a patient affected by osteogenesis imperfecta type 3
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F49777513%3A23310%2F15%3A43926981" target="_blank" >RIV/49777513:23310/15:43926981 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11110/15:10332201
Result on the web
<a href="http://dx.doi.org/10.2147/AGG.S58766" target="_blank" >http://dx.doi.org/10.2147/AGG.S58766</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.2147/AGG.S58766" target="_blank" >10.2147/AGG.S58766</a>
Alternative languages
Result language
angličtina
Original language name
COL1A2 gene analysis in a Czech osteogenesis imperfecta patient: a candidate novel mutation in a patient affected by osteogenesis imperfecta type 3
Original language description
Osteogenesis imperfecta is a heritable bone fragility disease with a heterogenic genetic origin. Most cases result from mutations of either the COL1A1 gene or the COL1A2 gene. We identified a novel COL1A2 gene mutation in a Czech patient, born to unaffected parents, who was diagnosed according to clinical and anthropometric findings and radiographic features as having type 3 osteogenesis imperfecta, which is a severe form of this disease. The identified Gly814Trp mutation was predicted by a number of complementary bioinformatic programs to result in functional alteration of the protein. This case report provides both evidence of a novel COL1A2 mutation resulting in type 3 osteogenesis imperfecta and a genotype:phenotype correlation in this affected individual.
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
EB - Genetics and molecular biology
OECD FORD branch
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Result continuities
Project
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Continuities
S - Specificky vyzkum na vysokych skolach
Others
Publication year
2015
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Advances in Genomics and Genetics
ISSN
1179-9870
e-ISSN
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Volume of the periodical
5
Issue of the periodical within the volume
august
Country of publishing house
US - UNITED STATES
Number of pages
7
Pages from-to
275-281
UT code for WoS article
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EID of the result in the Scopus database
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