Identification of 13 new mutations in the ACVRL1 gene in a group of 52 unselected Italian patients affected by hereditary haemorrhagic telangiectasia

C Olivieri

doi:10.1136/jmg.39.7.e39

Identification of 13 new mutations in the ACVRL1 gene in a group of 52 unselected Italian patients affected by hereditary haemorrhagic telangiectasia

C Olivieri

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https://doi.org/10.1136/jmg.39.7.e39

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Journal: Journal of Medical Genetics	Publication Date: Jul 1, 2002
Citations: 57

Affiliation: University of Pavia

#Mutations In ACVRL1 #Mutations In ENG #Hereditary Haemorrhagic Telangiectasia #Pulmonary Arteriovenous Malformations #ENG Gene #ACVRL1 Gene #Visceral Lesions #Positive Family History #Arteriovenous #Autosomal Dominant Disorder

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Hereditary haemorrhagic telangiectasia (HHT) (OMIM 187300) is an autosomal dominant disorder caused by mutations in either of two genes, endoglin ( ENG , OMIM 131195) (HHT1) and activin A receptor...

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Identification of 13 new mutations in the ACVRL1 gene in a group of 52 unselected Italian patients affected by hereditary haemorrhagic telangiectasia