Identification of a novel mutation site in maturity ‑onset diabetes of the young in a Chinese family by whole‑exome sequencing.

In conclusion, a novel mutation site of MODY type 4 in the PDX1 gene was identified in a family with MODY, which may provide a basis for its clinical treatment. Whole‑exome sequencing appears to be of assistance in accurately diagnosing MODY. PMID: 31322178 [PubMed - as supplied by publisher]
Source: Molecular Medicine Reports - Category: Molecular Biology Tags: Mol Med Rep Source Type: research