Hemoglobinopathies — Flashcards

Deficiency of the enzyme _____ causes albinism

_____ is due to mutations in the ATP7B gene on chromosome 13

Partial deficiency of _____ causes Kelley-Seegmiller syndrome.

In Hartnup's disease, there is deficiency of _____ protein in the intestine/ renal tubules or both

Alagille syndrome is associated with mutations in _____ gene in 90% of patients

β-thalassemia is often due to mutations in _____ and promoter sequences

Which epileptic syndrome has been associated with mutations in genes: ? _____

The following symbol represents _____zygotic twins on a pedigree chart

Enzyme Replacement Therapy for _____ disease requires replacement of alpha-1,4-glucosidase (aka acid maltase)

The enzyme _____ is deficient in Tay-Sachs disease