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Publications by Xintian Lu

Targeted Next-Generation Sequencing Identified a Novel ANK1 Mutation Associated With Hereditary Spherocytosis in a Chinese Family

English

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An ANK1 IVS3-2A>C Mutation Causes Exon 4 Skipping in Two Patients From a Chinese Family With Hereditary Spherocytosis

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Targeted Next Generation Sequencing Identifies a Novel Β-Spectrin Gene Mutation A2059P in Two Omani Children With Hereditary Pyropoikilocytosis

American Journal of Hematology

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Novel Hereditary Spherocytosis-Associated Splice Site Mutation in the ANK1 Gene Caused by Parental Gonosomal Mosaicism

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A Novel Stopgain Mutation c.G992A (p.W331X) in TACR3 Gene Was Identified in Nonobstructive Azoospermia by Targeted Next-Generation Sequencing

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Case Report Identification of a Novel SLC45A2 Mutation in Albinism by Targeted Next-Generation Sequencing

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A New Ankyrin Mutation (ANK1 EXON E9X) Causing Severe Hereditary Spherocytosis in the Neonatal Period

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Targeted Next-Generation Sequencing Revealed Novel Mutations in Chinese Ataxia Telangiectasia Patients: A Precision Medicine Perspective

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A Novel COL4A4 Mutation Identified in a Chinese Family With Thin Basement Membrane Nephropathy

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Novel EXT1 Mutation Identified in a Pedigree With Hereditary Multiple Exostoses

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