Mucolipidosis type iv in omani families with a novel mcoln1 mutation: search for evidence of founder effect

HIGHLIGHTS

• who: Badriya Al-Alawi and collaborators from the Department of Ophthalmology, Sultan Qaboos University Hospital, Muscat , have published the article: Mucolipidosis Type IV in Omani Families with a Novel MCOLN1 Mutation: Search for Evidence of Founder Effect, in the Journal: Genes 2022, 13, 248. of /2022/
• what: This study reported a total of six patients with some mucolipidosis. The authors report MLIV in two families from the Middle East with a novel mutation.
• how: The authors designed a new high-resolution melting (HRM) assay to screen 1280 population samples from departmental research depositories . . .
  

   

  

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