(Q28272035)

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Compound heterozygosity for new splice site mutations in the plakophilin 1 gene (PKP1) in a Chinese case of ectodermal dysplasia-skin fragility syndrome

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title

Compound heterozygosity for new splice site mutations in the plakophilin 1 gene (PKP1) in a Chinese case of ectodermal dysplasia-skin fragility syndrome (English)

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main subject

Skin fragility syndrome

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1 reference

Rui Zheng

1

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Ding-Fang Bu

series ordinal

2

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Xue-Jun Zhu

series ordinal

3

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language of work or name

English

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publication date

2005

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published in

Acta Dermato-Venereologica

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volume

85

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issue

5

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page(s)

394-9

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DOI

10.1080/00015550510037684

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PubMed ID

16159729

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ResearchGate publication ID

7602663

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(Q28272035)

Compound heterozygosity for new splice site mutations in the plakophilin 1 gene (PKP1) in a Chinese case of ectodermal dysplasia-skin fragility syndrome

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