0 Chromosome 14

CHROMOSOME 14 :
  • Alpha 1 antitrypsin deficiency
  • Familial HOCM
  • Krabbe disease
  • Niemann pick type C (NPC2 gene) (5% cases of type C)

Note: 

Niemann pick disease

Type A - Chromosome 11
Type B - Chromosome 11
Type C 
  • NPC1 - Chromosome 18
  • NPC2 - Chromosome 14
Approximately 95% of Niemann–Pick Type C cases are caused by genetic mutations in the NPC1 gene, referred to as type C1;
5% are caused by mutations in the NPC2 gene, referred to as type C2.


No comments:

Post a Comment

Ask your doubts / point out towards any error / show appreciation / explain anything you wish to.

Related Posts Plugin for WordPress, Blogger...
To Search for a "particular word" on "the page on your screen" , press Ctrl + F and then type the word you need to search on the visible page.

eg: If you need to search the word "Anatomy" on this page -- Press "Ctrl + F" , (a box will appear) and then type Anatomy in the box that has appeared.