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Article

Novel hereditary spherocytosis-associated splice site mutation in the ANK1 gene caused by parental gonosomal mosaicism.

Haematologica - 1 May 2018

Wang Xiong, Shen Na, Huang Ming, Lu Yanjun, Hu Qun

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Topics

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Share to Ankyrins
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 29449435
DOI: 10.3324/haematol.2017.186551
PMCID: PMC5927983

Genes

ANK1

Provenance

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Novel hereditary spherocytosis-associated splice site mutation in the ANK1 gene caused by parental gonosomal mosaicism.PMID 29449435Read ↗

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A Novel de novo Mutation in ANK1 Gene Identified through Targeted Next-Generation Sequencing in a Neonate with Hereditary Spherocytosis.Semantic proximity Read ↗

A tetranucleotide deletion in the ANK1 gene causes hereditary spherocytosis; a case of misdiagnosis.Semantic proximity Read ↗

Use of minigene assays as a useful tool to confirm the pathogenic role of intronic variations of the ANK1 gene: Report of two cases of hereditary spherocytosis.Semantic proximity Read ↗

Targeted next-generation sequencing identifies novel deleterious variants in ANK1 gene causing severe hereditary spherocytosis in Indian patients: expanding the molecular and clinical spectrum.Semantic proximity Read ↗

Molecular Genetic Mechanisms of Hereditary Spherocytosis: Current Perspectives.Semantic proximity Read ↗

De novo mutations in ANK1 and SPTB cause hereditary spherocytosis: three case reports and literature review.Semantic proximity Read ↗

A de novo ANK1 mutation in a childhood hereditary spherocytosis: a case report.Semantic proximity Read ↗

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