Mutation analysis of B3GALTL in Peters Plus syndrome (Q81979269)

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title

Mutation analysis of B3GALTL in Peters Plus syndrome (English)

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Linda M Reis

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Rebecca C Tyler

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Omar Abdul-Rahman

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Pamela Trapane

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Robert Wallerstein

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Diane Broome

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Jodi Hoffman

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Aneal Khan

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Christina Paradiso

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Nitin Ron

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Amanda Bergner

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Elena V Semina

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publication date

1 October 2008

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American Journal of Medical Genetics

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published in

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volume

146A

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issue

20

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page(s)

2603-2610

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Peters Plus syndrome is a new congenital disorder of glycosylation and involves defective Omicron-glycosylation of thrombospondin type 1 repeats

14 January 2020

cites work

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12 December 2020

The Peters' plus syndrome: a review

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12 December 2020

Molecular cloning and characterization of a novel human beta1,3-glucosyltransferase, which is localized at the endoplasmic reticulum and glucosylates O-linked fucosylglycan on thrombospondin type 1 repeat domain

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12 December 2020

Glycosylation in cellular mechanisms of health and disease

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12 December 2020

Murine ortholog of the novel glycosyltransferase, B3GTL: primary structure, characterization of the gene and transcripts, and expression in tissues

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12 December 2020

Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase

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12 December 2020

Prenatal sonographic findings in Peters-plus syndrome.

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12 December 2020

Kivlin syndrome and Peters'-Plus syndrome: are they the same disorder?

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12 December 2020

Peters' anomaly. The spectrum of associated ocular and systemic malformations

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12 December 2020

Autosomal recessive Peters anomaly, typical facial appearance, failure to thrive, hydrocephalus, and other anomalies: further delineation of the Krause-Kivlin syndrome

1 reference

12 December 2020

A novel human glycosyltransferase: primary structure and characterization of the gene and transcripts

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12 December 2020

The face of TSR revealed: an extracellular signaling domain is exposed

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12 December 2020

The thrombospondin type 1 repeat (TSR) superfamily: diverse proteins with related roles in neuronal development

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12 December 2020

Ocular and systemic features of Peters' anomaly.

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12 December 2020

Identification and characterization of abeta1,3-glucosyltransferase that synthesizes the Glc-beta1,3-Fuc disaccharide on thrombospondin type 1 repeats

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12 December 2020

Identifiers

DOI

10.1002/AJMG.A.32498

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PubMed publication ID

18798333

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