First Report of Familial Dysalbuminemic Hyperthyroxinemia With an ALB Variant.
Cho YY, Song JS, Park HD, Kim YN, Kim HI, Kim TH, Chung JH, Ki CS, Kim SW.
Cho YY, et al. Among authors: ki cs.
Ann Lab Med. 2017 Jan;37(1):63-65. doi: 10.3343/alm.2017.37.1.63.
Ann Lab Med. 2017.
PMID: 27834068
Free PMC article.
Upon Sanger sequencing of her ALB, a heterozygous c.725G>A (p.Arg242His) variant was identified. The patient's father and eldest son had similar thyroid function test results and were confirmed to have the same variant. ...
Upon Sanger sequencing of her ALB, a heterozygous c.725G>A (p.Arg242His) variant was identified. The patient's father and eldest son …