https://www.selleckchem.com/products/vx-661.html
To explore the genetic bias in a Chinese family suspected of having congenital nephrotic syndrome of the Finnish type (CNF). We developed a prenatal genetic diagnosis in a Chinese family with CNF. A single heterozygous mutation (c.3213delG) was found in the foetus IId and we presumed that it was an asymptomatic carrier of the normal phenotype. Additionally, two compound heterozygous variants (c.3213delG and c.3478CT) were discovered in the foetus IIe, which were inherited from the mother and father, respectively. We performed further
Gefällt mir
Kommentar
Teilen
