(Q73052525)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10511040%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10511040%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

author name string

T Kakiuchi

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10511040%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

Y Isashiki

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10511040%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

K Nakao

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10511040%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

S Sonoda

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10511040%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

K Kimura

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10511040%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

N Ohba

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10511040%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

language of work or name

English

0 references

publication date

1 September 1999

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10511040%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Ophthalmology

31 October 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10511040%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

volume

128

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10511040%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10511040%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

page(s)

370-372

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10511040%20AND%20SRC:MED&resulttype=core&format=json

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

31 October 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2899%2900143-9

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%2899%2900143-9

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%2899%2900143-9

Recent advances in molecular genetics of glaucomas

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2899%2900143-9

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%2899%2900143-9

10.1016/S0002-9394(99)00143-9

7 January 2021

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10511040%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

1 reference