ArticleWorld journal of clinical cases2022
Targeted next-generation sequencing identifies a novel nonsense mutation in ANK1 for hereditary spherocytosis: A case report.
Article in World journal of clinical cases, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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2 citing papers in PubMed, 4 citations in OpenAlex.
- Understanding the genetic architecture and phenotypic landscape of SPTB gene variants causing hereditary spherocytosis in an Indian cohort.Human genetics · 2025Article
- Clinical manifestations of 17 Chinese children with hereditary spherocytosis caused by novel mutations of theFrontiers in genetics · 2023Article
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Authors and funding
7 authors at 1 institution in 1 country.
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Abstract
backgroundHereditary spherocytosis (HS) is characterized by anemia, jaundice, splenomegaly, and cholelithiasis, and is caused by abnormal genes encoding red blood cell membrane components. The most common mutations found in HS are in the CASE SUMMARY: A 4-mo-old girl was admitted to our hospital with pallor that had lasted for more than 2 mo. She presented with jaundice, anemia and splenomegaly. A heterozygous mutation of
conclusionThe utilization of next-generation sequencing may assist with the accurate diagnosis of HS, especially in atypical cases.
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