ACVRL1

ACVRL1

Deellabo: PGD DNA
Gen (Gen Code): ACVRL1
Aliases Gen: ACVRLK1, ALK-1, ALK1, HHT, HHT2, ORW2, SKR3, TSR-I
Gen ID (NCBI): 94
OMIM Gen ID: 601284
Chromosomale locatie: 12q11-q14
Genetische aandoening / Analyse: Osler-Rendu-Weber syndroom 2 (ORW2)
OMIM aandoening ID: 600376
Overerving: AD
Aliases aandoening: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2; HHT2 
PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED, INCLUDED

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