Phenotypic and genotypic characteristics of children with Bartter syndrome
Phenotypic and genotypic characteristics of children with Bartter syndrome
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Publisher
Ankara: Akdema Informatics and Publishing
Journal title
Language
English
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Ankara: Akdema Informatics and Publishing
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Contents
Introduction. Bartter syndrome (BS) is a group of autosomal-recessive tubular disorders and it is classified into five genetic subtypes. BS can also be classified by phenotype (antenatal, classic). Patients with mutations in the same gene can present different phenotypes. In the present study, target gene sequencing was performed to evaluate the ge...
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Full title
Phenotypic and genotypic characteristics of children with Bartter syndrome
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TN_cdi_doaj_primary_oai_doaj_org_article_c894f0e388f04aa79f24b51538672ae1
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_c894f0e388f04aa79f24b51538672ae1
Other Identifiers
ISSN
0041-4301
E-ISSN
2791-6421
DOI
10.24953/turkjped.2021.4697
