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Displaying 8 of 8 results for "CLCNKB"
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  1. CLCKB_RAT UniProt:Swiss-Prot

    ID: P51802

    Description: Chloride channel protein ClC-Kb Cytoplasmic Helical Helical Helical Helical Helical Helical H...

  2. CLCKB_RABIT UniProt:Swiss-Prot

    ID: P51804

    Description: Chloride channel protein ClC-Kb Cytoplasmic Helical Helical Helical Helical Helical Helical H...

  3. CLCKB_XENLA UniProt:Swiss-Prot

    ID: Q9W701

    Description: Chloride channel protein ClC-Kb Cytoplasmic Helical Helical Helical Helical Helical Helical H...

  4. Supplementary Material for: Genetic Features of Chinese Patients with Gitelman Syndrome: Sixteen Novel SLC12A3 Mutations Identified in a New Cohort Figshare

    ID: doi:10.6084/M9.FIGSHARE.3497843.V1

    Release Date: 07-25-2016

    Description: flanking regions of the SLC12A3 and CLCNKB genes were screened by direct sequencing. Results:Weakness was the most commonly reported symptom in this cohort of patients with GS. In gender-based analyses, higher systolic blood pressure and urine protein excretion were observed in male patients. For genetic screening, 2 pathogenicSLC12A3 mutations were identified in 38 patients (70.4%), 1 mutation in 11 patients (20.4%) and no mutation in 5 patients (9.3%). In total, 42 distinct pathogenic mutations throughout SLC12A3 were identified; 16 were novel, including 9 missense, 1 deletion, 1 insertion, 3 splice site and 2 nonsense mutations. Eleven mutations were recurrently found in different patients. Among them, T...

  5. PowerPoint Slides for: Genetic Features of Chinese Patients with Gitelman Syndrome: Sixteen Novel SLC12A3 Mutations Identified in a New Cohort Figshare

    ID: doi:10.6084/M9.FIGSHARE.3501632.V1

    Release Date: 07-26-2016

    Description: flanking regions of the SLC12A3 and CLCNKB genes were screened by direct sequencing. Results:Weakness was the most commonly reported symptom in this cohort of patients with GS. In gender-based analyses, higher systolic blood pressure and urine protein excretion were observed in male patients. For genetic screening, 2 pathogenicSLC12A3 mutations were identified in 38 patients (70.4%), 1 mutation in 11 patients (20.4%) and no mutation in 5 patients (9.3%). In total, 42 distinct pathogenic mutations throughout SLC12A3 were identified; 16 were novel, including 9 missense, 1 deletion, 1 insertion, 3 splice site and 2 nonsense mutations. Eleven mutations were recurrently found in different patients. Among them, T...

  6. PowerPoint Slides for: Genetic Features of Chinese Patients with Gitelman Syndrome: Sixteen Novel SLC12A3 Mutations Identified in a New Cohort Figshare

    ID: doi:10.6084/M9.FIGSHARE.3501632

    Release Date: 07-26-2016

    Description: flanking regions of the SLC12A3 and CLCNKB genes were screened by direct sequencing. Results:Weakness was the most commonly reported symptom in this cohort of patients with GS. In gender-based analyses, higher systolic blood pressure and urine protein excretion were observed in male patients. For genetic screening, 2 pathogenicSLC12A3 mutations were identified in 38 patients (70.4%), 1 mutation in 11 patients (20.4%) and no mutation in 5 patients (9.3%). In total, 42 distinct pathogenic mutations throughout SLC12A3 were identified; 16 were novel, including 9 missense, 1 deletion, 1 insertion, 3 splice site and 2 nonsense mutations. Eleven mutations were recurrently found in different patients. Among them, T...

  7. Supplementary Material for: Genetic Features of Chinese Patients with Gitelman Syndrome: Sixteen Novel SLC12A3 Mutations Identified in a New Cohort Figshare

    ID: doi:10.6084/M9.FIGSHARE.3497843

    Release Date: 07-25-2016

    Description: flanking regions of the SLC12A3 and CLCNKB genes were screened by direct sequencing. Results:Weakness was the most commonly reported symptom in this cohort of patients with GS. In gender-based analyses, higher systolic blood pressure and urine protein excretion were observed in male patients. For genetic screening, 2 pathogenicSLC12A3 mutations were identified in 38 patients (70.4%), 1 mutation in 11 patients (20.4%) and no mutation in 5 patients (9.3%). In total, 42 distinct pathogenic mutations throughout SLC12A3 were identified; 16 were novel, including 9 missense, 1 deletion, 1 insertion, 3 splice site and 2 nonsense mutations. Eleven mutations were recurrently found in different patients. Among them, T...

  8. Additional file 1: Table S1. of A missense mutation in solute carrier family 12, member 1 (SLC12A1) causes hydrallantois in Japanese Black cattle Figshare

    ID: doi:10.6084/M9.FIGSHARE.C.3625814_D3

    Release Date: 12-15-2016

    Description: by simultaneous mutations in both the CLCNKA and CLCNKB genes. 2 CLCNKB is not identified or mapped on the UMD3.1 assembly of the bovine genome. 3 Gitelman syndrome is formerly considered a subset of the Bartter syndrome. (XLSX 50 kb)...


Displaying 8 of 8 results for "CLCNKB"