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Molecular analysis of contiguous exons of phenylalanine hydroxylase: identification of a novel PKU mutation 1-gen-1993 Dianzani, I; Camaschella, Clara; Saglio, G; Ferrero, Gb; Ramus, S; Ponzone, A; Cotton, Rgh
Linkage analysius of 6p21 polymorphic markers and the hereditary hemochromatosis: localization of the gene centromeric to HLA-F 1-gen-1993 Gasparini, P; Borgato, L; Piperno, A; Girelli, D; Olivieri, O; Gottardi, E; Roetto, A; Dianzani, I; Fargion, S; Schinaia, G; Cappellini, Md; Gandini, G; Pignatti, Pf; Fiorelli, G; De Sandre, G; Camaschella, Clara
Dilemmas and Progress in Mutation Detection 1-gen-1993 Dianzani, I; Camaschella, Clara; PONZONE A, COTTON RGH
Genetic history of PKU mutations in Italy 1-gen-1994 Dianzani, I; Giannattasio, S; De Sanctis, L; Marra, E; Ponzone, A; Camaschella, Clara; Piazza, A.
A unique origin for the Sicilian (deltabeta)-thalassemia in 33 unrelated families and its rapid diagnostic characterization by PCR analysis 1-gen-1994 Esposito, G; Grosso, M; Gottardi, E; Izzo, P; Camaschella, Clara; Salvatore, F.
Interaction of a rare illegitimate recombination event and poly A addition site -thalassemia.mutation resulting in a severe form of 1-gen-1994 Fortina, P; Parrella, T; Sartore, M; Gottardi, E; Gabutti, V; Delgrosso, K; Mansfield, E; Rappaport, E; Schwartz, E; Camaschella, Clara; Surrey, S.
A new complex polymorphic repeat close to HLA-A and HLA-E loci 1-gen-1994 Totaro, A; Grifa, A; Roetto, A; Zelante, L; Camaschella, Clara; Gasparini, P.
Thalassemia intermedia: an update 1-gen-1995 Camaschella, Clara; Cappellini, Md
Report on the International Workshop on Molecular Genetics of hemochromatosis 1-gen-1995 Worwood, M; Gasparini, P; Camaschella, Clara
New polymorphisms and markers in the HLA class I region: relevance to the Hereditary Hemochromatosis 1-gen-1995 Totaro, A; Grifa, A; Roetto, A; Lunardi, C; D'Agruma, L; Sbaiz, L; Zelante, L; De Sandre, G; Camaschella, Clara; Gasparini, P.
A novel missense mutation in the phenylalanine hydroxilase gene leading to complete loss of enzymatic activity 1-gen-1995 Dianzani, I; Knappskog, Pm; de Sanctis, L; Giannattasio, S; Riva, E; Ponzone, A; Apold, J; Camaschella, Clara
Construction of a YAC contig covering human chromosome 6p22 1-gen-1996 Malaspina, P; Roetto, A; Trettel, F; Carella, M; Franco, B; Camaschella, Clara; Novelletto, A.
Hereditary Hemochromatosis: generation of a transcription map within a refined and extended map of HLA class I region 1-gen-1996 Totaro, A; Rommens, Jm; Grifa, A; Lunardi, C; Carella, M; Huizenga, Jj; Roetto, A; Camaschella, Clara; De Sandre, G; Gasparini, P.
The ancestral hemochromatosis haplotype is associated with a severe phenotype expression in Italian patients 1-gen-1996 Piperno, A; Arosio, C; Fargion, S; Roetto, A; Nicoli, C; Girelli, D; Sbaiz, L; Gasparini, P; Boari, G; Sampietro, M; Camaschella, Clara
Mutation analysis of HLA-H gene in italian Hemochromatosis patients 1-gen-1997 Carella, M; D'Ambrosio, L; Totaro, A; Grifa, A; Valentino, Ma; Piperno, A; Girelli, D; Roetto, A; Franco, B; Gasparini, P.; ., ; Camaschella, Clara
Heterogeneity of Hemochromatosis in Italy 1-gen-1998 Piperno, A; Sampietro, M; Pietrangelo, A; Arosio, C; Lupica, L; Montosi, G; Vergani, A; Fraquelli, M; Girelli, D; Pasquero, P; Roetto, A; Gasparini, P; Fragion, S; Conte, D; Camaschella, Clara
The Juvenile Hemochromatosis locus maps to chromosome 1q 1-gen-1999 Roetto, A; Totaro, A; Cazzola, M; Cicilano, M; Bosio, S; D'Ascola, G; Carella, M; Zelante, L; Kelly, A; Cox, M; T, ; Gasparini, P; C, ; Camaschella, Clara
Inherited HFE-unrelated hemochromatosis in italian families 1-gen-1999 Camaschella, Clara; Fargion, S; Sampietro, M; Roetto, A; Bosio, S; Garozzo, G; Arosio, C; Piperno, A.
A new G51C mutation in the IRE of L-ferritin in hyperferritinemia cataract syndrome decreases the binding affinity of the mutant IRE to IRP. 1-gen-1999 Camaschella, Clara; Zecchina, G; Lockitch, G; Roetto, A; Campanella, A; Arosio, P; Levi, SONIA MARIA ROSA
The gene encoding transferrin receptor 2 is mutated in a new type of hemochromatosis mapping to 7q22 1-gen-2000 Camaschella, Clara; Roetto, A; Calì, A.; DE GOBBI, M.; Garozzo, G; Carella, M.; Maiorano, N.; Totaro, A.; Gasparini, P.
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