The CDAN2 gene, responsible for congenital dyserythropoietic anaemia, type II (CDA II), was recently mapped to 20q11.2. We report data on an additional member of a previously studied CDA II family. Th...
An individual, whose parents are third cousins, has been shown to be homozygous for the rare Mi.V. condition. The proposita's red blood cells type as M-, N+(weak), S-, s+(strong), U+, Mi(a-), Vw-, Hil...
Four offspring of three different Huntington disease (HD) affected x affected matings were assessed by genetic linkage analysis for possible homozygosity. One individual was found to have a 95% likeli...
INTRODUCTION: Erythropoietic protoporphyria was generally assumed to be an autosomal dominant disease with variable penetrance. The determination of the ferrochelatase activity and the biological mole...
It has been reported previously that genes that have been called Dc- represent a heterogeneous group and that some of them would better be described as Dc[e] and Dc(e). We have studied the blood of a ...