Open AccessA custom ddPCR method for the detection of copy number variations in the nebulin triplicate region
Author(s) -
L. Sagath,
Vilma-Lotta Lehtokari,
Carina WallgrenPettersson,
Katarina Pelin,
Kirsi Kiiski
Publication year - 2022
Publication title -
plos one
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.99
H-Index - 332
ISSN - 1932-6203
DOI - 10.1371/journal.pone.0267793
Subject(s) - nebulin , segmental duplication , digital polymerase chain reaction , copy number variation , gene duplication , nemaline myopathy , comparative genomic hybridization , copy number analysis , biology , genetics , gene dosage , genome , polymerase chain reaction , gene , titin , sarcomere , gene family , microbiology and biotechnology , gene expression , myocyte