Optimization of a Multiplex PCR-RFLP Method Used for Detection of Three Primary Mutations in Leber’s Hereditary Optic Neuropathy Patients

Optimization of a Multiplex PCR-RFLP Method Used for Detection of Three Primary Mutations in Leber’s Hereditary Optic Neuropathy Patients

Leber’s hereditary optic neuropathy (LHON) is the most commonly inherited disease that causes blindness in one or both eyes, with a minimum prevalence of 1 in 31 000 in the northeast of England. What causes LHON is not fully known but three mitochondrial mutations, G3460A, G11778A, and T14484C, have...

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Bibliographic Details
Main Author: Nord, Emilia
Format: Others
Language:English
Published: Uppsala universitet, Institutionen för kvinnors och barns hälsa 2020
Subjects:
LHON
Restriction enzyme
Multiplex PCR
Mutation detection
Mitochondrial mutation
Medical and Health Sciences
Medicin och hälsovetenskap
Online Access:http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-412744

Internet

http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-412744

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