Open AccessWhole exome sequencing for diagnosis of hereditary thrombocytopenia
Author(s) -
Ponthip Mekchay,
Chupong Ittiwut,
Rungnapa Ittiwut,
Benjaporn Akkawat,
Supang Maneesri le Grand,
Netchanok Leela-adisorn,
Suwanna Muanpetch,
Weerapan Khovidhunkit,
Darintr Sosothikul,
Vorasuk Shotelersuk,
Kanya Suphapeetiporn,
Ponlapat Rojnuckarin
Publication year - 2020
Publication title -
medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.59
H-Index - 148
eISSN - 1536-5964
pISSN - 0025-7974
DOI - 10.1097/md.0000000000023275
Subject(s) - medicine , compound heterozygosity , exome sequencing , mutation , bernard–soulier syndrome , phenotype , missense mutation , genotype , pathology , gastroenterology , platelet , genetics , gene , biology