(Q28285772)

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Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy

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title

Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy (English)

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main subject

ethylmalonic encephalopathy

1 reference

P Mereghetti

8

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Federica Invernizzi

object named as

F Invernizzi

series ordinal

10

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Valeria Tiranti

object named as

V Tiranti

series ordinal

13

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author name string

R Mineri

series ordinal

1

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M Rimoldi

series ordinal

2

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A B Burlina

series ordinal

3

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S Koskull

series ordinal

4

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C Perletti

series ordinal

5

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B Heese

series ordinal

6

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U von Döbeln

series ordinal

7

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I Di Meo

series ordinal

9

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M Zeviani

series ordinal

11

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G Uziel

series ordinal

12

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language of work or name

English

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publication date

July 2008

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published in

Journal of Medical Genetics

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volume

45

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issue

7

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page(s)

473-8

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Identifiers

DOI

10.1136/JMG.2008.058271

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PubMed publication ID

18593870

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ResearchGate publication ID

5259323

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(Q28285772)

Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy

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