Identification of a de novo insertional mutation in P0 in a patient with a Déjérine-Sottas syndrome (DSS) phenotype (Q28287354)

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Language	Label	Description	Also known as
English	Identification of a de novo insertional mutation in P0 in a patient with a Déjérine-Sottas syndrome (DSS) phenotype	scientific article

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scholarly article

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title

Identification of a de novo insertional mutation in P0 in a patient with a Déjérine-Sottas syndrome (DSS) phenotype (English)

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main subject

patient

1 reference

based on heuristic

inferred from title

phenotype

1 reference

based on heuristic

inferred from title

author

Christine Van Broeckhoven

series ordinal

5

object named as

C Van Broeckhoven

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author name string

B Rautenstrauss

series ordinal

1

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E Nelis

series ordinal

2

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H Grehl

series ordinal

3

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R A Pfeiffer

series ordinal

4

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language of work or name

English

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publication date

September 1994

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published in

Human Molecular Genetics

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volume

3

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issue

9

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page(s)

1701-2

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Identifiers

DOI

10.1093/HMG/3.9.1701

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PubMed publication ID

7530550

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