Author's response to reviews Title: APOA5 Q97X mutation identified through homozygosity mapping causes severe hypertriglyceridemia in a consanguineous family. Authors:
نویسندگان
چکیده
Catalina Dussaillant ([email protected]) Valentina Serrano ([email protected]) Alberto Maiz ([email protected]) Susana Eyheramendy ([email protected]) Luis Rodrigo Cataldo ([email protected]) Matías Chávez ([email protected]) Susan V Smalley ([email protected]) Attilio Rigotti ([email protected]) Lorena Rubio ([email protected]) Carlos F Lagos ([email protected]) José A Martinez ([email protected]) José Luis Santos ([email protected])
منابع مشابه
The First Iranian Case of Mucopolysaccharidosis IIIC: Use of Homozygosity Mapping in a Consanguineous Pedigree
Mucopolysaccharidosis type IIIC (MPSIIIC) is a rare subtype of mucopolysaccharidosis disorder family caused by mutations in heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT) gene. MPSIIIC is subdivided into four subtypes which have overlapping features, and are indistinguishable at clinical level. In populations with high consanguineous marriage rate, homozygosity mapping can be a good c...
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Anophthalmia or microphthalmia (A/M) is a rare group of congenital/developmental ocular malformations, characterized by absent or small eye within the orbit affecting one or both eyes. It has complex etiology with chromosomal, monogenic with high heterogeneity, and environmental causes. We performed genome SNP-array analysis followed by autozygosity mapping and sequencing in the members o...
متن کاملInherited apolipoprotein A-V deficiency in severe hypertriglyceridemia.
OBJECTIVE Mutations in LPL or APOC2 genes are recognized causes of inherited forms of severe hypertriglyceridemia. However, some hypertrigliceridemic patients do not have mutations in either of these genes. Because inactivation or hyperexpression of APOA5 gene, encoding apolipoprotein A-V (apoA-V), causes a marked increase or decrease of plasma triglycerides in mice, and because some common pol...
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Leber congenital amaurosis (LCA) and retinitis pigmentosa (RP) are retinal degenerative diseases which cause severe retinal dystrophy affecting the photoreceptors. LCA is predominantly inherited as an autosomal recessive trait and contributes to 5% of all retinal dystrophies; whereas RP is inherited by all the Mendelian pattern of inheritance and both are leading causes of visual impairment in ...
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