Three Variants Affecting Exon 1 of <i>Ectodysplasin A</i> Cause X-Linked Hypohidrotic Ectodermal Dysplasia: Clinical and Molecular Characteristics.

For 5’ss, a highly significant correlation was observed between the mutational consequences at the RNA level and the number of potentially utilizable cryptic donor splice sites in the region around the affected splice site ( Buratti et al., 2007 ).

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