Clinical and laboratory features of Macedonian children with OCRL mutations. (Q51818643)

13 April 2018

title

Clinical and laboratory features of Macedonian children with OCRL mutations. (English)

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13 April 2018

author name string

Velibor Tasic

1

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13 April 2018

Vladimir J Lozanovski

2

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13 April 2018

Petar Korneti

3

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13 April 2018

Nadica Ristoska-Bojkovska

4

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13 April 2018

Vesna Sabolic-Avramovska

5

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13 April 2018

Zoran Gucev

6

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13 April 2018

Michael Ludwig

7

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13 April 2018

publication date

20 January 2011

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13 April 2018

published in

Pediatric Nephrology

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13 April 2018

volume

26

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13 April 2018

page(s)

557-562

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13 April 2018

issue

4

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13 April 2018

https://scigraph.springernature.com/pub.10.1007/s00467-010-1758-9

exact match

0 references

cites work

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Carrier assessment in families with lowe oculocerebrorenal syndrome: novel mutations in the OCRL1 gene and correlation of direct DNA diagnosis with ocular examination.

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A role of the Lowe syndrome protein OCRL in early steps of the endocytic pathway

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Renal phenotype in Lowe Syndrome: a selective proximal tubular dysfunction

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OCRL1 mutations in Dent 2 patients suggest a mechanism for phenotypic variability

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Locus heterogeneity of Dent's disease: OCRL1 and TMEM27 genes in patients with no CLCN5 mutations

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Functional overlap between murine Inpp5b and Ocrl1 may explain why deficiency of the murine ortholog for OCRL1 does not cause Lowe syndrome in mice

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Poor renal uptake of 99mtechnetium-dimercaptosuccinic acid and near-normal 99mtechnetium-mercaptoacetyltriglycine renogram in nephronophthisis

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Identifiers

DOI

1 reference

13 April 2018

release_fqevbdonuvhbdpu4omaccq2tsm

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/fqevbdonuvhbdpu4omaccq2tsm

24 November 2022

mapped directly with Wikidata item

PubMed ID

21249396

1 reference

13 April 2018