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Items: 3

1.

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

Olivieri C, Mira E, Del├╣ G, Pagella F, Zambelli A, Malvezzi L, Buscarini E, Danesino C.

J Med Genet. 2002 Jul;39(7):E39. No abstract available.

2.

Hereditary hemorrhagic telangiectasia: an overview of diagnosis and management in the molecular era for clinicians.

Bayrak-Toydemir P, Mao R, Lewin S, McDonald J.

Genet Med. 2004 Jul-Aug;6(4):175-91. Review.

PMID:
15266205
3.

Analysis of ENG and ACVRL1 genes in 137 HHT Italian families identifies 76 different mutations (24 novel). Comparison with other European studies.

Olivieri C, Pagella F, Semino L, Lanzarini L, Valacca C, Pilotto A, Corno S, Scappaticci S, Manfredi G, Buscarini E, Danesino C.

J Hum Genet. 2007;52(10):820-9. Epub 2007 Sep 5.

PMID:
17786384

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