Genetic Disorders and Biochemical Pathology — Flashcards

Which gene mutation is implicated in Imerslund-Grasbeck syndrome?_____

OAT gene for gyrate atrophy is located on chromosome _____.

Harlequin ichthyosis is due to mutations of the _____ genes

Which enzyme deficiency is seen in EDS type VI?_____

Bartter's syndrome is associated with _____ PGE2 levels

Fish odor syndrome is also called as _____

The COCH gene, may contribute to Meniere's disease and is located on the long arm (q) of chromosome _____

_____ syndrome is a rare multisystem disorder of copper metabolism with features of both Wilsons and Menkes disease.

Piebaldism is a benign condition, and has mutations in _____.

Secretion of intrinsic factor and gastric acid is _____ in patients of Imerslund-Grasbeck syndrome