(Q38901462)

7 September 2017

title

A novel frameshift founder mutation in the cytochrome P450 1B1 (CYP1B1) gene is associated with primary congenital glaucoma in Morocco (English)

1 reference

primary congenital glaucoma

7 September 2017

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A Belmouden

1

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7 September 2017

R Melki

2

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7 September 2017

M Hamdani

3

1 reference

7 September 2017

K Zaghloul

4

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7 September 2017

A Amraoui

5

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7 September 2017

S Nadifi

6

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7 September 2017

O Akhayat

7

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7 September 2017

H-J Garchon

8

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7 September 2017

publication date

1 October 2002

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7 September 2017

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7 September 2017

volume

62

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7 September 2017

issue

4

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7 September 2017

page(s)

334-339

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Primary infantile glaucoma (congenital glaucoma)

7 September 2017

cites work

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620415.X

Identification of three different truncating mutations in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma (Buphthalmos) in families linked to the GLC3A locus on chromosome 2p21

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620415.X

Sequence analysis and homology modeling suggest that primary congenital glaucoma on 2p21 results from mutations disrupting either the hinge region or the conserved core structures of cytochrome P4501B1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620415.X

Mutations in CYP1B1, the gene for cytochrome P4501B1, are the predominant cause of primary congenital glaucoma in Saudi Arabia

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620415.X

Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novo events and a dominant modifier locus.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620415.X

Molecular characterisation of congenital glaucoma in a consanguineous Canadian community: a step towards preventing glaucoma related blindness

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620415.X

Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620415.X

Cytochrome P450 1B1 gene mutations in Japanese patients with primary congenital glaucoma(1).

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620415.X

Primary congenital glaucoma: three case reports on novel mutations and combinations of mutations in the GLC3A (CYP1B1) gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620415.X

Base-calling of automated sequencer traces using phred. I. Accuracy assessment

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620415.X

Consed: a graphical tool for sequence finishing

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620415.X

Genetic structure of north-west Africa revealed by STR analysis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620415.X

Congenital glaucoma and its inheritance

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620415.X

Assignment of a locus (GLC3A) for primary congenital glaucoma (Buphthalmos) to 2p21 and evidence for genetic heterogeneity

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620415.X

A second locus (GLC3B) for primary congenital glaucoma (Buphthalmos) maps to the 1p36 region

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620415.X

Fast and sensitive silver staining of DNA in polyacrylamide gels

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620415.X

Base-calling of automated sequencer traces using phred. II. Error probabilities

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620415.X

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1034/J.1399-0004.2002.620415.X

1 reference

7 September 2017

1 reference