Identification of 13 new mutations in the ACVRL1 gene in a group of 52 unselected Italian patients affected by hereditary haemorrhagic telangiectasia.
Genetica Medica, Università di Pavia, Pavia, Italy. cidi@unipv.it
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Olivieri
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Mira
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Delù
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Pagella
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Zambelli
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Malvezzi
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Buscarini
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Danesino
D030201:Activin Receptors, Type I / Q000235:genetics*; D030301:Activin Receptors, Type II; D000595:Amino Acid Sequence / Q000235:genetics; D000818:Animals; D002645:Chickens; D004252:DNA Mutational Analysis; D029721:Drosophila Proteins / Q000235:genetics; D004331:Drosophila melanogaster / Q000235:genetics; D005260:Female; D006801:Humans; D007558:Italy; D008297:Male; D051379:Mice; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D051381:Rats; D016415:Sequence Alignment; D013683:Telangiectasia, Hereditary Hemorrhagic / Q000235:genetics*; D029867:Xenopus Proteins / Q000235:genetics; D014982:Xenopus laevis / Q000235:genetics
D029721:Drosophila Proteins; D029867:Xenopus Proteins; C425364:ACVRL1 protein, human; D030201:Activin Receptors, Type I; D030301:Activin Receptors, Type II; C498931:Acvrl1 protein, mouse