2 documents found, page 1 of 1
Wide spectrum of F9 variants in hemophilia B families from the Portuguese popul...
Moreira, Isabel; Diniz, Maria João; Tavares, Alice; Morais, Sara; Freitas, B.; Araújo, F.; Gago, T.; Antunes, EM; Catarino, C.; Campos, M.; Almeida, T.Introduction: Hemophilia B is an X-linked bleeding disorder caused by molecular defects in the Factor IX gene (F9), leading to either deficiency or functional abnormality of Factor IX. Actual data indicate a high heterogeneity of variants in F9. Over 1000 different variants have been reported, including pathogenic single nucleotide variants (SNPs), indels and complex variants. Materials and Methods: 86 index pa...
The new 14C chronology for the Palaeolithic site of La Ferrassie, France: the d...
Talamo, S.; Aldeias, Vera; Goldberg, P.; Chiotti, L.; Dibble, H. L.; Guérin, G.; Hublin, J.‐J.; Madelaine, S.; Maria, R.; Sandgathe, D.; Steele, T. E.The grand abri at La Ferrassie (France) has been a key site for Palaeolithic research since the early part of the 20th century. It became the eponymous site for one variant of Middle Palaeolithic stone tools, and its sequence was used to define stages of the Aurignacian, an early phase of the Upper Palaeolithic. Several Neanderthal remains, including two relatively intact skeletons, make it one of the most impo...