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Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes
(BMJ Publishing Group, 2012)
OBJECTIVE:
To investigate the utility of autozygome analysis and exome sequencing in a cohort of patients with suspected or confirmed mitochondrial encephalomyopathy.
METHODS:
Autozygome was used to highlight candidate ...
Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes
(BMJ Publishing Group, 2012)
OBJECTIVE:
To investigate the utility of autozygome analysis and exome sequencing in a cohort of patients with suspected or confirmed mitochondrial encephalomyopathy.
METHODS:
Autozygome was used to highlight candidate ...
APOA5 Q97X Mutation Identified through homozygosity mapping causes severe hypertriglyceridemia in a Chilean consanguineous family
(2012)
Abstract
Background
Severe hypertriglyceridemia (HTG) has been linked to defects in LPL, APOC2, APOA5, LMF1 and GBIHBP1 genes. However, a number of severe HTG cases are ...
Las mujeres de Luna: cultivo de la mandioca, consanguinidad y elaboracion culinaria entre los kaliña de SurinamThe Moon Women: manioc cultivation, consanguinity and culinary elaboration among the Kaliña of Suriname
(Pontificia Universidad Católica del Perú. Fondo EditorialPE, 1988)
Andermann syndrome in a pakistani family caused by a novel mutation in SLC12A6
(Elsevier, 2017)
Agenesis of the corpus callosum with peripheral neuropathy (ACCPN) or Andermann syndrome is an autosomal recessive condition caused by mutations in SLC12A6. The neurodegenerative features are characterized primarily by ...
Andermann syndrome in a pakistani family caused by a novel mutation in SLC12A6
(Elsevier, 2017)
Agenesis of the corpus callosum with peripheral neuropathy (ACCPN) or Andermann syndrome is an autosomal recessive condition caused by mutations in SLC12A6. The neurodegenerative features are characterized primarily by ...
La migración italiana en Venezuela
(Universidad Nacional Autónoma de México. Centro de Investigaciones sobre América Latina y el Caribe, 2021)
Consumption and sale of quail eggs in Costa Rica.Consumo y venta del huevo de codorniz en Costa Rica
(Universidad de Costa Rica, 2021)