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Article

G6PD NanKang (517 T-->C; 173 Phe-->Leu): a new Chinese G6PD variant associated with neonatal jaundice.

Human heredity - 1 Jan 2000

Chen H L, Huang M J, Huang C S, Tang T K

Abstract excerpt

Using a non-radioactive PCR-SSCP technique, we identified a novel glucose-6-phosphate dehydrogenase (G6PD) mutation in a Chinese newborn with neonatal jaundice. This new variant (G6PD NanKang) causes a T to C change at nucleotide position 517, producing a Phe173Leu substitution in the human G6PD...

Topics

Fetal Blood
Genetic Variation
Glucosephosphate Dehydrogenase
Glucosephosphate Dehydrogenase Deficiency
Haplotypes
Humans
Infant, Newborn
Jaundice, Neonatal
Male
Point Mutation
Polymerase Chain Reaction
Polymorphism, Single-Stranded Conformational

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 8807322
DOI: 10.1159/000154354

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8807322-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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