Article
Insights of Noncanonical Splice-site Variants on RNA Splicing in Patients With Congenital Hypothyroidism.
The Journal of clinical endocrinology and metabolism - 17 Feb 2022
Albader Najla, Zou Minjing, BinEssa Huda A, Abdi Saba, Al-Enezi Anwar F, Meyer Brian F, Alzahrani Ali S, Shi Yufei
Abstract excerpt
CONTEXT: Congenital hypothyroidism (CH) is caused by mutations in the genes for thyroid hormone synthesis. In our previous investigation of CH patients, approximately 53% of patients had mutations in either coding exons or canonical splice sites of causative genes. Noncanonical splice-site variants in the intron were detected but their pathogenic significance was not known. OBJECTIVE: This work aims to evaluate...
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