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Mutations in OCRL1 gene in Indian children with Lowe syndrome

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Mutations in OCRL1 gene in Indian children with Lowe syndrome (English)

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Sidharth Kumar Sethi

1

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Arvind Bagga

series ordinal

2

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Ashima Gulati

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3

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Pankaj Hari

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4

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Neerja Gupta

series ordinal

5

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Joel Lunardi

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6

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language of work or name

English

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publication date

October 2008

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published in

Clinical and experimental nephrology

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volume

12

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issue

5

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page(s)

358-62

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cites work

Nonsense mutations in the OCRL-1 gene in patients with the oculocerebrorenal syndrome of Lowe

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stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/18500547

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Physical mapping and genomic structure of the Lowe syndrome gene OCRL1.

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/18500547

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The Lowe's oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol polyphosphate-5-phosphatase

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/18500547

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Characterization of a germline mosaicism in families with Lowe syndrome, and identification of seven novel mutations in the OCRL1 gene

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stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/18500547

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations are not uniformly distributed throughout the OCRL1 gene in Lowe syndrome patients

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stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/18500547

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

OCRL1 mutation analysis in French Lowe syndrome patients: implications for molecular diagnosis strategy and genetic counseling.

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/18500547

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

1 reference

https://pubmed.ncbi.nlm.nih.gov/18500547

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The oculocerebrorenal syndrome gene product is a 105-kD protein localized to the Golgi complex

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/18500547

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Spectrum of mutations in the OCRL1 gene in the Lowe oculocerebrorenal syndrome

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stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/18500547

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

OCRL mutation analysis in Italian patients with Lowe syndrome

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/18500547

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

DOI

10.1007/S10157-008-0059-0

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PubMed publication ID

18500547

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(Q28281266)

Mutations in OCRL1 gene in Indian children with Lowe syndrome

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