Noninvasive Immunohistochemical Diagnosis and Novel Mutations Causing Autosomal Dominant Tubulointerstitial Kidney Disease

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Noninvasive Immunohistochemical Diagnosis and Novel Mutations Causing Autosomal Dominant Tubulointerstitial Kidney Disease

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scientific article published on 02 July 2018

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wetenschappelijk artikel

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наукова стаття, опублікована у вересні 2018

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name

Noninvasive Immunohistochemica ...... ulointerstitial Kidney Disease

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Noninvasive Immunohistochemica ...... ulointerstitial Kidney Disease

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type

Item

label

Noninvasive Immunohistochemica ...... ulointerstitial Kidney Disease

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Noninvasive Immunohistochemica ...... ulointerstitial Kidney Disease

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Noninvasive Immunohistochemica ...... ulointerstitial Kidney Disease

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Noninvasive Immunohistochemica ...... ulointerstitial Kidney Disease

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Noninvasive Immunohistochemica ...... ulointerstitial Kidney Disease

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Alena Vrbacká

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Andrea Wenzel

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Anna Greka

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Anna Přistoupilová

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Anthony J Bleyer

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Bodo B Beck

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Brendan Blumenstiel

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Constantinos C Deltas

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Dervla M Connaughton

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Gregory Papagregoriou

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P2860

Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy

Basic local alignment search tool

Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia

Clinical characterization of a family with a mutation in the uromodulin (Tamm-Horsfall glycoprotein) gene

Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing

Dominant renin gene mutations associated with early-onset hyperuricemia, anemia, and chronic kidney failure

Update on cystinuria.

Hepatocyte Nuclear Factor 1β-Associated Kidney Disease: More than Renal Cysts and Diabetes.

Variable clinical presentation of an MUC1 mutation causing medullary cystic kidney disease type 1

Autosomal Dominant Tubulointerstitial Kidney Disease.

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2418-2431

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scholarly article

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10.1681/ASN.2018020180

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English

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2018-07-02T00:00:00Z

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29967284

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nephrology

immunohistochemistry

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6115665

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