(Q28141397)

English

Two novel missense mutations of the OCTN2 gene (W283R and V446F) in a patient with primary systemic carnitine deficiency

scientific article (publication date: 2000)

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Two novel missense mutations of the OCTN2 gene (W283R and V446F) in a patient with primary systemic carnitine deficiency (English)

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1 reference

E Mayatepek

1

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J Nezu

series ordinal

2

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I Tamai

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3

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A Oku

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4

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M Katsura

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5

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M Shimane

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6

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A Tsuji

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7

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language of work or name

English

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publication date

January 2000

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published in

Human Mutation

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volume

15

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issue

1

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page(s)

118

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Identifiers

DOI

10.1002/(SICI)1098-1004(200001)15:1<118::AID-HUMU28>3.0.CO;2-8

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PubMed publication ID

10612840

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(Q28141397)

Two novel missense mutations of the OCTN2 gene (W283R and V446F) in a patient with primary systemic carnitine deficiency

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