(Q28279643)

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A 17-bp insertion and a Phe215----Cys missense mutation in the dihydrolipoyl transacylase (E2) mRNA from a thiamine-responsive maple syrup urine disease patient WG-34

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title

A 17-bp insertion and a Phe215----Cys missense mutation in the dihydrolipoyl transacylase (E2) mRNA from a thiamine-responsive maple syrup urine disease patient WG-34 (English)

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main subject

maple syrup urine disease

1 reference

C W Fisher

1

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K S Lau

series ordinal

2

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C R Fisher

series ordinal

3

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R M Wynn

series ordinal

4

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R P Cox

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5

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D T Chuang

series ordinal

6

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language of work or name

English

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publication date

31 January 1991

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published in

Biochemical and Biophysical Research Communications

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volume

174

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issue

2

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page(s)

804-9

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Identifiers

DOI

10.1016/0006-291X(91)91489-Y

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PubMed publication ID

1847055

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(Q28279643)

A 17-bp insertion and a Phe215----Cys missense mutation in the dihydrolipoyl transacylase (E2) mRNA from a thiamine-responsive maple syrup urine disease patient WG-34

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