Clinical, genetic, and pathologic characterization of Mexican founder mutation c.1387A>G.

07:00 EST 1st March 2019 | BioPortfolio

Summary of "Clinical, genetic, and pathologic characterization of Mexican founder mutation c.1387A>G."

To characterize the clinical phenotype, genetic origin, and muscle pathology of patients with the c.1387A>G mutation.


Journal Details

This article was published in the following journal.

Name: Neurology. Genetics
ISSN: 2376-7839
Pages: e315


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Medical and Biotech [MESH] Definitions

The discipline studying genetic composition of populations and effects of factors such as GENETIC SELECTION, population size, MUTATION, migration, and GENETIC DRIFT on the frequencies of various GENOTYPES and PHENOTYPES using a variety of GENETIC TECHNIQUES.

Persons living in the United States of Mexican descent.

Genes that have a suppressor allele or suppressor mutation (SUPPRESSION, GENETIC) which cancels the effect of a previous mutation, enabling the wild-type phenotype to be maintained or partially restored. For example, amber suppressors cancel the effect of an AMBER NONSENSE MUTATION.

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Persons living in the United States of Mexican (MEXICAN AMERICANS), Puerto Rican, Cuban, Central or South American, or other Spanish culture or origin. The concept does not include Brazilian Americans or Portuguese Americans.

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