Clinical application of targeted long read sequencing in prenatal beta‐thalassemia testing and genet...
Clinical application of targeted long read sequencing in prenatal beta‐thalassemia testing and genetic counseling
About this item
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Publisher
United States: John Wiley & Sons, Inc
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Language
English
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Publisher
United States: John Wiley & Sons, Inc
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Background
Beta thalassemia, related to HBB mutation and associated with elevated hemoglobin A2 (HbA2), is an important genetic hemoglobinopathy with high incidences of disease and carrier rates in Singapore. Carrier screening is essential to facilitate prenatal counseling and testing. However, when individuals with elevated HbA2 do not have an...
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Full title
Clinical application of targeted long read sequencing in prenatal beta‐thalassemia testing and genetic counseling
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TN_cdi_proquest_miscellaneous_2868117857
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2868117857
Other Identifiers
ISSN
2324-9269
E-ISSN
2324-9269
DOI
10.1002/mgg3.2285
