(Q47758495)
Statements
1 reference
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)
1 reference
Eli Sprecher
1 reference
Vered Molho-Pessach
1 reference
Arieh Ingber
1 reference
Efraim Sagi
1 reference
Margarita Indelman
1 reference
Reuven Bergman
1 reference
1 March 2004
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122
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3
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647-651
1 reference