Genotype–phenotype association in patients with SCN4A mutation
نویسندگان
چکیده
منابع مشابه
Association of mtDNA mutation with Autism in Iranian patients
The autism spectrum disorders (ASD) are amongst the most heritable complex disorders. Although there have been many efforts to locate the genes associated with ASD risk, many has been remained to be disclosed about the genetics of ASD. Scrutiny's have only disclosed a small number of de novo and inherited variants significantly associated with susceptibility to ASD. These only comprise a small ...
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Lack of Association of Mitochondrial A3243G tRNALeu Mutation in Iranian Patients with Type 2 Diabetes
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متن کاملMutation analysis of CACNA1S and SCN4A in patients with hypokalemic periodic paralysis.
Mutations in CACNA1S (calcium channel, voltage‑dependent, L type, alpha 1S subunit) and SCN4A (sodium channel, voltage‑gated, type IV, alpha subunit) are associated with hypokalemic periodic paralysis (HPP). The aim of the current study was to investigate CACNA1S and SCN4A mutations in patients with HPP. Mutations in CACNA1S and SCN4A were detected in three familial hypokalemic periodic paralys...
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the autism spectrum disorders (asd) are amongst the most heritable complex disorders. although there have been many efforts to locate the genes associated with asd risk, many has been remained to be disclosed about the genetics of asd. scrutiny's have only disclosed a small number of de novo and inherited variants significantly associated with susceptibility to asd. these only comprise a s...
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ژورنال
عنوان ژورنال: The Lancet
سال: 2019
ISSN: 0140-6736
DOI: 10.1016/s0140-6736(19)31298-x