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Article

A novel splicing mutation in CLCNKB in a Chinese patient with Bartter syndrome type III.

Chinese medical journal - 1 Nov 2010

Dong Yan, Ji Gang, Feng Qi-Wen, Zeng Xian-Ting, Jiang Geng-Ru

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Identifiers

PMID: 21162973

Genes

CLCNKB

Provenance

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Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel splicing mutation in CLCNKB in a Chinese patient with Bartter syndrome type III.PMID 21162973Read ↗

A novel CLCNKB variant in a Chinese family with classic Bartter syndrome and prenatal genetic diagnosis.Semantic proximity Read ↗

Thirteen novel CLCNKB variants and genotype/phenotype association study in 42 Chinese patients with Bartter syndrome type 3.Semantic proximity Read ↗

Splicing Characterization of CLCNKB Variants in Four Patients With Type III Bartter SyndromeSemantic proximity Read ↗

Mutation spectrum of Chinese patients with Bartter syndromeSemantic proximity Read ↗

A novel splicing abnormality in a Japanese patient with Gaucher's disease.Semantic proximity Read ↗

Novel deep intronic variant in CLCN1 causing autosomal recessive myotonia congenitaSemantic proximity Read ↗

A New Case Report of a CLCNKB Complex Heterozygous Mutation in Adult-Onset Type III Bartter Syndrome.Semantic proximity Read ↗

A Novel CLCN1 Gene Mutation Associated with Hypokalemic Periodic Paralysis in a Pregnant Woman.Semantic proximity Read ↗

Genetic basis of Bartter syndrome in Korea.Semantic proximity Read ↗

A novel TGM1 splicing mutation in a collodion baby with cicatricial ectropion.Semantic proximity Read ↗

Gitelman syndrome due to p.A204T mutation in CLCNKB gene.Semantic proximity Read ↗

A Novel Missense Mutation in NALCN cause CLIFAHDD Syndrome and Prenatal Diagnosis in ChinaSemantic proximity Read ↗

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