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Items: 2

1.

Clinical features of pulmonary arterial hypertension in young people with an ALK1 mutation and hereditary haemorrhagic telangiectasia.

Smoot LB, Obler D, McElhinney DB, Boardman K, Wu BL, Lip V, Mullen MP.

Arch Dis Child. 2009 Jul;94(7):506-11. doi: 10.1136/adc.2007.133082. Epub 2009 Apr 8.

PMID:
19357124
2.

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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