Research article  

A novel point mutation within the EDA gene causes an exon dropping in mature RNA in Holstein Friesian cattle breed affected by X-linked anhidrotic ectodermal dysplasia

Maria Gargani, Alessio Valentini, Lorraine Pariset BMC Veterinary Research 2011, 7:35 (8 July 2011)

Abstract | Full text | PDF | PubMed | Cited on BioMed Central

Research  

Genome-wide prediction of splice-modifying SNPs in human genes using a new analysis pipeline called AASsites

Kirsten Faber, Karl-Heinz Glatting, Phillip J Mueller, Angela Risch, Agnes Hotz-Wagenblatt BMC Bioinformatics 2011, 12(Suppl 4):S2 (5 July 2011)

Abstract | Full text | PDF | PubMed | Cited on BioMed Central

Research  

Molecular Genetic Analysis of the PLP1 Gene in 38 Families with PLP1-related disorders: Identification and Functional Characterization of 11 Novel PLP1 Mutations

Serena Grossi, Stefano Regis, Roberta Biancheri, Matthew Mort, Susanna Lualdi, Enrico Bertini, Graziella Uziel, Odile Boespflug-Tanguy, Alessandro Simonati, Fabio Corsolini, Ercan Demir, Valentina Marchiani, Antonio Percesepe, Franco Stanzial, Andrea Rossi, Catherine Vaurs-Barrière, David N Cooper, Mirella Filocamo Orphanet Journal of Rare Diseases 2011, 6:40 (16 June 2011)

Abstract | Full text | PDF | PubMed