Fig. 1.
AT signal peptide mutation. Exon 2 PCR product was directly sequenced in the proband and a heterozygous single nucleotide substitution was identified at nucleotide 2418, leading to the amino acid substitution L(-10)P.
AT signal peptide mutation. Exon 2 PCR product was directly sequenced in the proband and a heterozygous single nucleotide substitution was identified at nucleotide 2418, leading to the amino acid substitution L(-10)P.
