(Q32143559)

6 July 2017

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

1 reference

6 July 2017

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T Kakiuchi-Matsumoto

1

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6 July 2017

Y Isashiki

2

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6 July 2017

N Ohba

3

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6 July 2017

K Kimura

4

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6 July 2017

S Sonoda

5

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6 July 2017

K Unoki

6

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6 July 2017

language of work or name

English

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publication date

1 March 2001

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American Journal of Ophthalmology

6 July 2017

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6 July 2017

131

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6 July 2017

3

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6 July 2017

345-350

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

6 July 2017

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2800%2900808-4

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2800%2900808-4

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2800%2900808-4

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.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2800%2900808-4

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2800%2900808-4

A novel truncating mutation of cytochrome P4501B1 (CYP1B1) gene in primary infantile glaucoma

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2800%2900808-4

Isolation and characterization of the human cytochrome P450 CYP1B1 gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2800%2900808-4

Recent advances in molecular genetics of glaucomas

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2800%2900808-4

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2800%2900808-4

10.1016/S0002-9394(00)00808-4

7 January 2021

Identifiers

DOI

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6 July 2017

1 reference