Article detail · 2018
Melanocortin 2 Receptor Mutations and Clinical Significance in Case of Cushing Syndrome and Subclinical Cushing Sydrome and Primary Aldeosteronism
Journal
International Journal of Human GeneticsISSN 2456-6330
The ISSN points to another catalog journal; the name is from the YÖKSİS record.
- Year
- 2018
- Type
- article
Data source split
- YÖKSİS YÖKSİS article record
- YÖKSİS venue International Journal of Human Genetics
- Catalog match (ISSN) International Journal of Human Genetics (discontinued)
- OpenAlex OpenAlex enrichment (abstract, citations, topics)
Abstract
OpenAlex · English
This study reports the epidemiological findings collected during 11.5 years of the genotypes, metabolic and clinical phenotypes, of phenylketonuria (PKU) in twenty-two Mexican children in the state of Jal isco.The phenylalanine hydroxylase (PAH) variants were identified in 17/22 PKU cases.Four cases had mild hyper-phenylalanine (MHPA), two had mild PKU, one subject had moderate PKU and ten cases had classic PKU.Twelve variants of the PAH gene were identified: c.60+5G>T with 47.1 percent followed by c.441+5G>T, c.508C>G and c.1241A>G with 8.8 percent each; c.106611G>A with 5.9 percent and other variants with 2.9 percent each.A new pathogenic missense mutation is reported in c.791A>G.The researchers' study suggests that the population of Jalisco has a spectrum not found in the rest of the country with a genetic heterogeneity that has shown more severe variants.
Topics
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