Homozygous splice site mutations in PKP1 result in loss of epidermal plakophilin 1 expression and underlie ectodermal dysplasia/skin fragility syndrome in two consanguineous families (Q47758495)
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scientific article
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | Homozygous splice site mutations in PKP1 result in loss of epidermal plakophilin 1 expression and underlie ectodermal dysplasia/skin fragility syndrome in two consanguineous families |
scientific article |
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Homozygous splice site mutations in PKP1 result in loss of epidermal plakophilin 1 expression and underlie ectodermal dysplasia/skin fragility syndrome in two consanguineous families (English)
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Eli Sprecher
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Vered Molho-Pessach
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Arieh Ingber
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Efraim Sagi
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Margarita Indelman
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Reuven Bergman
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1 March 2004
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122
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3
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647-651
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