Category: Reagents

The clinical effect of homozygous ABCA4 alleles in 18 patients.

OBJECTIVETo illustrate the phenotypic presentation of a group of individuals with the homozygous variant ABCA4 related diseases. METHODretrospective case series. METHODEighteen of the affected individuals from 13 families ascertained from… Read more »

The Burden of JAK2V617F Mutated Allele in Turkish Patients With Myeloproliferative Neoplasms.

BACKGROUNDStudies on the impact of the load on the allele JAK2V617F and clinical phenotypic traits in Philadelphia-negative myeloproliferative neoplasms (MPNs Ph-negative) have reported variable results. We aimed to analyze the… Read more »