A Novel Variant in G6PD (c.1375C>G) Identified from a Hispanic Neonate with Extreme Hyperbilirubinemia and Low G6PD Enzymatic Activity

Bahr, TM; Lozano-Chinga, M; Agarwal, AM; Meznarich, JA; Yost, CC; Li, P; Reading, NS; Prchal, JT; Christensen, RD

Bahr, TM (corresponding author), Univ Utah, Dept Pediat, Williams Bldg,295 Chipeta Way, Salt Lake City, UT 84108 USA.

NEONATOLOGY, 2020; 117 (4): 532

Abstract

We report a novel glucose-6-phosphate dehydrogenase (G6PD) variant (c.1375C>G) discovered in a 3-day-old Hispanic male child from Salt Lake City, U......

Full Text Link


Links

期刊讨论 | 中国SCI论文 | 期刊主页 | 投稿经验 | 杂志官网 | 投稿链接 | 作者需知 | PMC链接 | Pubmed全文检索