In an expanded NASH cohort, 42% (14/33) of explants had PASD+ globules, and 92% of these PASD+ cases were homozygous (n=1) or heterozygous (n=11) for the SERPINA1 Z allele, corresponding to nearly 40% of all NASH patients. Overall, the Z allele was present in 10% of all liver...
Daxin and Vietnam wild populations, with several individuals showing homozygous allelic patterns corresponding to first- to third-degree relatives. In fact, two GDXWs were closely related to three YNWs and all VNWs (Supplementary Fig.5and Supplementary Table16). HNWs were considerably less related...
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10.2% and 27.5% of their annotated genes, respectively (Supplementary Fig.8). For example, the dominant tuber shape geneRo, which was reported absent in the DM clone27, has two homozygous copies (RHC10H1G1859.2andRHC10H2G2643.2) on two RH haplotypes and has one copy (g7634.t1) on M6....
Section > Chapter Angius, A.; Dessi, V.; Lovicu, M.; De Virgiliis, S.; Pirastu, M.; Cao, A. European Journal of Pediatrics 157(2): 128-129 1998 ISSN/ISBN:0340-6199 9504786 10.1007/s004310050783 008511417 Article/Abstract emailed within 0-6 h ...
The patient with GPI deficiency typically carries either a homozygous or compound heterozygous genotype [5]. Conventional laboratory tests are insufficient to provide specific indications beyond heamolytic anaemia for the diagnosis of GPI deficiency. The diagnosis is primarily made by excluding other ...
In total, out of 52 genotyped ewes, 25 were homozygous wild type for both variants, and 27 were heterozygous for the intron 2 variant (Fig. 2a). Although, we had no sample of the reported common maternal grandsire, we concluded that either he was a carrier or a germline mosaic for the...
To date, DBQD2 has been described and molecularly confirmed only in seven consanguineous families, in whom six distinct homozygous mutations were demonstrated in XYLT1. Out of the six pathogenic alterations, there were two splicing, two truncating (one frameshift and one nonsense) as well as ...