Novel SPTB frameshift mutation in a Chinese neonatal case of hereditary spherocytosis type 2: A case...
Novel SPTB frameshift mutation in a Chinese neonatal case of hereditary spherocytosis type 2: A case report
About this item
Full title
Author / Creator
Xu, Cunxin , Wu, Ya , Wang, Dujuan , Zhang, Xuemin and Wang, Ningling
Publisher
Athens: Spandidos Publications
Journal title
Language
English
Formats
Publication information
Publisher
Athens: Spandidos Publications
Subjects
More information
Scope and Contents
Contents
Hereditary spherocytosis (HS) is an erythrocyte membrane disease with a non-specific phenotype, particularly occurring in neonatal patients, and its diagnosis is challenging. The present study reports on a patient with neonatal HS and reviewed the genetic characteristics of reported neonatal HS cases in China. The patient was admitted only a few ho...
Alternative Titles
Full title
Novel SPTB frameshift mutation in a Chinese neonatal case of hereditary spherocytosis type 2: A case report
Authors, Artists and Contributors
Author / Creator
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_9353470
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_9353470
Other Identifiers
ISSN
1792-0981
E-ISSN
1792-1015
DOI
10.3892/etm.2022.11537
