Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and...
Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathy
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Publisher
New York: Wiley Subscription Services, Inc., A Wiley Company
Journal title
Language
English
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Publisher
New York: Wiley Subscription Services, Inc., A Wiley Company
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Scope and Contents
Contents
Respiratory chain complex I deficiencies represent a genetically heterogeneous group of diseases resulting from mutations in either mitochondrial or nuclear DNA. Combination of denaturing high performance liquid chromatography and sequence analysis allowed us to show that a 4‐bp deletion in intron 2 (IVS2+5_+8delGTAA) of the NDUFV2 gene (encoding N...
Alternative Titles
Full title
Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathy
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Record Identifier
TN_cdi_hal_primary_oai_HAL_inserm_04139046v1
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_hal_primary_oai_HAL_inserm_04139046v1
Other Identifiers
ISSN
1059-7794
E-ISSN
1098-1004
DOI
10.1002/humu.10225
