Rosario de Pablo

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The Romani, the largest European minority group with approximately 11 million people, constitute a mosaic of languages, religions, and lifestyles while sharing a distinct social heritage. Linguistic and genetic studies have located the Romani origins in the Indian subcontinent. However, a genome-wide perspective on Romani origins and population(More)
Galactokinase deficiency is an inborn error of metabolism that, if untreated, results in the development of cataracts in the first weeks of life. The disorder is rare worldwide, but has a high incidence among the Roma (Gypsies). In 1999, we reported the founder Romani mutation, P28T, identified in affected families from Bulgaria. Subsequent studies have(More)
Medium chain acyl-CoA dehydrogenase (MCAD) deficiency is recognized as the most common hereditary defect of fatty acid oxidation in humans. Death is the outcome of the first attack in about 25% of cases. A point mutation (Ala to Gly at position 985) of the MCAD gene represents more than 90% of alleles causing MCAD deficiency. The frequency of this allelic(More)
This conference will be held in Toulouse, France, at the Universite Paul Sabatier on August 21-24, 1996. The main topics will include: MHC and non-MHC alloantigenic systems, genetic mapping, T and B cells (receptors, subsets differentiation), cytokines, antigen-presenting cells, transplantation (allo and xeno, solid organ, and bone marrow), autoimmunity,(More)
HLA-B73, first described by Mayr and Kimbauer (1981), is a poorly characterized allospecificity, serologically related to the B7-CREG. We polymerase chain reaction-amplified, cloned and sequenced the HLA-B alleles (B*5101 and B'7301, Fig. 1) of the B-LCL LE023, established from a Spanish Caucasoid individual expressing HLA-B73 (A26,32; Cwl; B51, 73;(More)
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