https://www.selleckchem.com/products/py-60.html
To detect genetic variant in a sib-pair with Finnish type congenital nephrotic syndrome (CNF). Clinical data of the sib-pair was reviewed. Coding regions of the NPHS1 gene was analyzed for the sib-pair and both parents. The sister and brother respectively developed severe proteinuria 1 month and 28 days after birth, in addition with low serum albumin, hypercholesterolemia and severe edema, which were suggestive of CNF. Genetic testing identified that the sib-pair has both carried two heterozygous variants of NPHS1 gene, namely c.2605G
Gefällt mir
Kommentar
Teilen
