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Article

Molecular Genetic Mechanisms of Hereditary Spherocytosis: Current Perspectives.

Acta haematologica - 1 Jan 2000

He Ben-Jin, Liao Lin, Deng Zeng-Fu, Tao Yi-Feng, Xu Yu-Chan, Lin Fa-Quan

Abstract excerpt

With the widespread use of genetic diagnostic technologies, many novel mutations have been identified in hereditary spherocytosis (HS)-related genes, including SPTA1, SPTB, ANK1, SLC4A1, and EPB42. However, mutations in HS-related genes are dispersed and nonspecific in the diagnosis of some HS patients, indicating significant heterogeneity in the molecular deficiency of HS. It is necessary to provide the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 29402830
DOI: 10.1159/000486229

Genes

ANK1
EPB42
SPTA1
SPTB

Provenance

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