Causative Mutations and Mechanism of Androgenetic Hydatidiform Moles.
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DOI: 10.1016/j.ajhg.2018.10.007
Abstract: Androgenetic complete hydatidiform moles are human pregnancies with no embryos and affect 1 in every 1,400 pregnancies. They have mostly androgenetic monospermic genomes with all the chromosomes originating from a haploid sperm and no maternal… read more here.
Keywords: mutations mechanism; hydatidiform; androgenetic complete; complete hydatidiform ... See more keywords
Spectrum of Causative Mutations in Patients with Hemophilia A in Russia
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DOI: 10.3390/genes14020260
Abstract: Hemophilia A (HA) is one of the most widespread, X-linked, inherited bleeding disorders, which results from defects in the F8 gene. Nowadays, more than 3500 different pathogenic variants leading to HA have been described. Mutation… read more here.
Keywords: causative mutations; spectrum causative; analysis; mutations patients ... See more keywords