CYP1B1 mutational screening in a Portuguese cohort of primary congenital glaucoma patients.

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CYP1B1 mutational screening in a Portuguese cohort of primary congenital glaucoma patients.

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2016 nî lūn-bûn

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2016年の論文

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2016年学术文章

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2016年学术文章

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2016年学术文章

@zh-cn

2016年学术文章

@zh-hans

2016年学术文章

@zh-my

2016年学术文章

@zh-sg

2016年學術文章

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2016年學術文章

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name

CYP1B1 mutational screening in ...... congenital glaucoma patients.

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CYP1B1 mutational screening in ...... congenital glaucoma patients.

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Item

label

CYP1B1 mutational screening in ...... congenital glaucoma patients.

@en

CYP1B1 mutational screening in ...... congenital glaucoma patients.

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prefLabel

CYP1B1 mutational screening in ...... congenital glaucoma patients.

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CYP1B1 mutational screening in ...... congenital glaucoma patients.

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P1476

CYP1B1 mutational screening in ...... y congenital glaucoma patients

@en

P2093

C Faro

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E Silva

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G Wainwright

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M J Simões

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R Roberts

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S Carmona

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P2860

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

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.

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

Genotype-phenotype correlation in Moroccan patients with primary congenital glaucoma.

CYP1B1 gene analysis in primary congenital glaucoma Brazilian patients: novel mutations and association with poor prognosis.

Mutations in CYP1B1 cause primary congenital glaucoma by reduction of either activity or abundance of the enzyme.

P304

197-199

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scholarly article

P356

10.1080/13816810.2016.1188121

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P433

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P478

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P50

Conceição Egas

P577

2016-06-07T00:00:00Z

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P698

27268095

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