PMM2 intronic branch-site mutations in CDG-Ia (Q46866789)

26 December 2017

title

PMM2 intronic branch-site mutations in CDG-Ia (English)

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26 December 2017

Nathalie Seta

8

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author name string

Sandrine Vuillaumier-Barrot

1

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26 December 2017

Christiane Le Bizec

2

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Pascale De Lonlay

3

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Nathalie Madinier-Chappat

4

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26 December 2017

Anne Barnier

5

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Thierry Dupré

6

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Geneviève Durand

7

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26 December 2017

publication date

20 December 2005

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26 December 2017

Molecular Genetics and Metabolism

published in

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26 December 2017

volume

87

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page(s)

337-340

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issue

4

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26 December 2017

Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia)

cites work

1 reference

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Lack of homozygotes for the most frequent disease allele in carbohydrate-deficient glycoprotein syndrome type 1A

7 January 2021

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Characterization of the 415G>A (E139K) PMM2 mutation in carbohydrate-deficient glycoprotein syndrome type Ia disrupting a splicing enhancer resulting in exon 5 skipping

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.015

A new insight into PMM2 mutations in the French population

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.015

Distribution and consensus of branch point signals in eukaryotic genes: a computerized statistical analysis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.015

A point mutation in an intronic branch site results in aberrant splicing of COL5A1 and in Ehlers-Danlos syndrome type II in two British families

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.015

Two essential splice lariat branchpoint sequences in one intron in a xeroderma pigmentosum DNA repair gene: mutations result in reduced XPC mRNA levels that correlate with cancer risk.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.015

10.1016/J.YMGME.2005.10.015

7 January 2021

Identifiers

DOI

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26 December 2017

PubMed ID

16376131

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26 December 2017