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Items: 3

1.

DHPLC-based mutation analysis of ENG and ALK-1 genes in HHT Italian population.

Lenato GM, Lastella P, Di Giacomo MC, Resta N, Suppressa P, Pasculli G, Sabbà C, Guanti G.

Hum Mutat. 2006 Feb;27(2):213-4.

PMID:
16429404
2.

Association of a polymorphism of the ACVRL1 gene with sporadic arteriovenous malformations of the central nervous system.

Simon M, Franke D, Ludwig M, Aliashkevich AF, Köster G, Oldenburg J, Boström A, Ziegler A, Schramm J.

J Neurosurg. 2006 Jun;104(6):945-9.

PMID:
16776339
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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