Open AccessTargeted sequencing of the DMD locus: A comprehensive diagnostic tool for all mutations
Author(s) -
Sankaramoorthy Aravind,
Berty Ashley,
Ashraf U. Mannan,
Aparna Ganapathy,
K. B. Ramesh,
Aparna Ramachandran,
Upendra gthomba,
Arun Shastry
Publication year - 2019
Publication title -
indian journal of medical research
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.578
H-Index - 87
ISSN - 0971-5916
DOI - 10.4103/ijmr.ijmr_290_18
Subject(s) - multiplex ligation dependent probe amplification , sanger sequencing , genetics , point mutation , gene duplication , duchenne muscular dystrophy , locus (genetics) , genetic testing , mutation , population , multiplex , biology , gene mutation , gene , medicine , exon , bioinformatics , environmental health
Duchenne muscular dystrophy (DMD) is an X-linked recessive disorder and is caused mainly by deletion, duplication and point mutations in the DMD gene. Diagnosis of DMD has been a challenge as the mutations in the.