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Huntington's Disease: is a fatal hereditary disease that destroys neurons in areas of the brain involved in the emotions
Marfan's Syndrome: is a connective tissue disorder that has been linked to the FBN1 gene on chromosome 15.
Retinoblastoma: is a cancer of the retina. It occurs mostly in children younger than 5 years and accounts for about 3% of the cancers occurring in children younger than 15 years.
Albinism:is a form of hypopigmentary disorder, caused by mutations in genes that regulate the melanin synthesis.
Galactosemia :is a rare metabolic disorder which affects an individual's ability to properly metabolize the sugar galactose.
Glucose-6-phosphate dehydrogenase (G6PD): deficiency is disease featuring abnormally low levels of the G6PD enzyme, which plays an important role in red blood cell function.
- Retinitis Pigmentosa: is a eye disease caused by mutations in the RPY gene.
