Pulmonary Arterial Hypertension Associated with ACVRL1 (ALK1) Mutations
Specialty: | Allergy, Immunology, Anesthesiology, Cardiology, Dermatology, Endocrinology, Diabetes, Metabolism, Emergency Medicine, Family, General Practice, Geriatrics, Internal Medicine, Medical Genetics, Neurological Surgery, Neurology, Obstetrics, Gynecology, Oncology, Ophthalmology, Orthopedics, Otolaryngology, Pathology, Pediatrics, Physical Medicine and Rehabilitation, Plastic Surgery, Preventive Medicine, Psychiatry, Radiology, Surgery, Urology, Other |
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Description: | Activin A receptor type II-like 1 (Activin Receptor-Like Kinase I, ACVRL1 or ALK1) is a gene that encodes a cell surface receptor of the serine/threonine kinase type. The protein is important for proper development of blood vessels. Mutations in the gene are associated with vascular malformations. |
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