(Q28138516)

English

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

scientific article (publication date: December 1999)

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title

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

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author name string

S Vuillaumier-Barrot

series ordinal

1

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A Barnier

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2

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M Cuer

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3

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G Durand

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4

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B Grandchamp

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5

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N Seta

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6

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language of work or name

English

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publication date

December 1999

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published in

Human Mutation

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volume

14

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issue

6

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page(s)

543-4

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Identifiers

DOI

10.1002/(SICI)1098-1004(199912)14:6<543::AID-HUMU17>3.0.CO;2-S

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PubMed publication ID

10571956

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(Q28138516)

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

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