Makale detayı · 2018
Melanocortin 2 Receptor Mutations and Clinical Significance in Case of Cushing Syndrome and Subclinical Cushing Sydrome and Primary Aldeosteronism
Dergi
International Journal of Human GeneticsISSN 2456-6330
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- Yıl
- 2018
- Tür
- article
Veri kaynağı ayrımı
- YÖKSİS YÖKSİS makale kaydı
- YÖKSİS dergi adı International Journal of Human Genetics
- Katalog eşleşmesi (ISSN) International Journal of Human Genetics (discontinued)
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Özet
OpenAlex · İngilizce
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.
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