Loss-of-function of an N-acetylglucosaminyltransferase, POMGnT1, in muscle-eye-brain disease (Q28176853)

2

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Kazuhiro Kobayashi

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Kiyomi Taniguchi

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Masao Kawakita

5

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Tatsushi Toda

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Tamao Endo

Biochemical and Biophysical Research Communications

7

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language of work or name

English

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publication date

20 June 2003

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published in

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volume

306

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issue

1

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page(s)

93-7

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cites work

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An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy

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Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome

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Defective glycosylation in muscular dystrophy

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Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan

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Mutant glycosyltransferase and altered glycosylation of alpha-dystroglycan in the myodystrophy mouse

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Identifiers

DOI

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Consolidated OpenCitations Corpus – April 2017

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Consolidated OpenCitations Corpus – April 2017

PubMed publication ID

12788071

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Consolidated OpenCitations Corpus – April 2017