Open AccessApplication of multiplex ligation-dependent probe amplification in the genetic testing of oculocutaneous albinism
Author(s) -
Yingzi Zhang,
Dayong Bai,
Qimin Zhan,
Suzhou Zhao,
Xiumin Yang,
Wei Li,
Aihua Wei
Publication year - 2019
Publication title -
chinese medical journal/chinese medical journal
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.537
H-Index - 63
eISSN - 2542-5641
pISSN - 0366-6999
DOI - 10.1097/cm9.0000000000000356
Subject(s) - oculocutaneous albinism , multiplex ligation dependent probe amplification , sanger sequencing , albinism , genetics , biology , copy number variation , compound heterozygosity , point mutation , hypopigmentation , multiplex , gene duplication , mutation , gene , exon , genome