Exon skipping therapy of erythropoietic protoporphyria

The present invention relates to methods and pharmaceutical compositions for the treatment of Erythropoietic Protoporphyria. In particular, the […]

Transgenic mouse model for myotonic dystrophy: dm300 carrying 300 ctg

Transgenic mouse model carrying the myotonic dystrophy type 1 (DM1) locus (45kb of human sequences) with the DMPK gene and about 300 unstable CTG […]

Tp53inp1-deficient mouse

This mouse is deficient for TP53INP1 (both isoforms TP53INP1alpha and TP53INP1beta). TP53INP1 is a key stress factor endowed with a tumor suppressor […]

Rat-anti tp53inp1, clone e12

The monoclonal antibody reacts with human and mouse TP53INP1 (both isoforms TP53INP1alpha and TP53INP1beta). TP53INP1 is a key stress factor endowed […]

Rat-anti tp53inp1, clone f8

The monoclonal antibody reacts with human and mouse TP53INP1 (both isoforms TP53INP1alphaƒnand TP53INP1beta). TP53INP1 is a key stress factor endowed […]

Anti-kiaa0753 rat monoclonal antibody 17d4

This antibody recognizes the human KIAA0753 protein (also named OFIP or MNR). The epitope is located at the carboxy terminus of the protein, between […]

Nomenclature of rare diseases, including all genetic diseases

Comprehensive inventory of 5,000 rare diseases, indexed with ICD10, OMIM, genes (HGNC nomenclature), swissprot, genatlas, class of prevalence, class […]

Anti-kiaa0753 rat monoclonal antibody 5h3

This antibody recognizes the human KIAA0753 protein (also named OFIP or MNR). The epitope is located at the carboxy terminus of the protein, between […]

New production system for human recombinant leptin

Leptin is an adipocyte-derived pleiotropic hormone that modulates a large number of physiological functions, including control of body weight and […]

Directory of research activities in the field of rare diseases and

Directory of 5,000 ongoing academic research projects funded at national or European level in 36 countries, classified by disease and health product […]