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POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease
scientific article
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Statements
instance of
scholarly article
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title
POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease
(English)
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main subject
brain
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muscle-eye-brain disease
1 reference
based on heuristic
inferred from title
author
Leena Valanne
object named as
L Valanne
series ordinal
8
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Bru Cormand
object named as
B Cormand
series ordinal
5
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William B. Dobyns
series ordinal
6
object named as
W B Dobyns
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author name string
C Diesen
series ordinal
1
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A Saarinen
series ordinal
2
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H Pihko
series ordinal
3
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C Rosenlew
series ordinal
4
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J Dieguez
series ordinal
7
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T Joensuu
series ordinal
9
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A-E Lehesjoki
series ordinal
10
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language of work or name
English
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publication date
October 2004
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published in
Journal of Medical Genetics
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volume
41
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issue
10
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page(s)
e115
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Identifiers
DOI
10.1136/JMG.2004.020701
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PMC publication ID
1735594
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PubMed publication ID
15466003
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ResearchGate publication ID
8249664
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