1. Volume 119, Issue 2, Pages 441-445 (August 2000)
Two novel nonsense mutations of HFE gene in five unrelated Italian patients with hemochromatosis 
Alberto Piperno, Cristina Arosio, Laura Fossati, Mauro Viganò, Paola Trombini, Anna Vergani, Giuseppe Mancia 
Gastroenterology 
Volume 119, Issue 2, Pages (August 2000)
DOI: /gast
Copyright © 2000 American Gastroenterological Association Terms and Conditions

2. Fig. 1
(A) Direct sequencing of sense strand of PCR products of exon 3 in patients with HFE-Ossola and HFE-Brianza mutations compared with wild type. The sequence is for codons of amino acids numbered Arrow indicates the single base substitution in the heterozygous state in probands. (B) Restriction endonuclease analysis of the PCR products obtained with specific mismatched primers creating a BsrSI site in the wild-type sequence. In the heterozygous affected patients, both the digested (wild-type) and undigested (mutated) bands can be seen. Lane M, marker; lane 1, wild-type; lane 2, patient.
Gastroenterology  , DOI: ( /gast )
Copyright © 2000 American Gastroenterological Association Terms and Conditions

3. Fig. 2
Family pedigrees of the 3 HH proband compound heterozygotes for C282Y and HFE-Ossola. The ages and iron indices of the probands are shown in Table 1. Figure shows age and serum iron indices of the relatives and chromosome 6p haplotypes of all individuals studied. Chromosome 6p haplotypes of the HH patients are boxed, and the haplotype carrying the novel mutation is shown in bold. Arrows indicates probands; black squares indicate patients with hemochromatosis.
Gastroenterology  , DOI: ( /gast )
Copyright © 2000 American Gastroenterological Association Terms and Conditions

4. Family pedigrees of the 2 HH proband compound heterozygotes for C282Y and HFE-Brianza. The ages and iron indices of the probands are shown in Table 1. Figure includes age and serum iron indices of the relatives and chromosome 6p haplotypes of all individuals. Chromosome 6p haplotypes of the HH patients are boxed, and the haplotype carrying the novel mutation is shown in bold. Arrows indicate probands; black squares indicate patients with hemochromatosis.
Gastroenterology  , DOI: ( /gast )
Copyright © 2000 American Gastroenterological Association Terms and Conditions