Table 3.

Mutation analysis results in 14 GSD III patients

Patient no.	Exon no.	Nucleotide change allele 1	Amino acid change allele 1	Mutation type	Exon no.	Nucleotide change allele 2	Amino acid change allele 2	Mutation type	Mutation analysis method
1	17	c.2039G>A	p.Trp680X	Nonsense	17	c.2039G>A	p.Trp680X	Nonsense	DGGE
2	17	c.2039G>A	p.Trp680X	Nonsense	17	c.2039G>A	p.Trp680X	Nonsense	DGGE
3	17	c.2039G>A	p.Trp680X	Nonsense	17	c.2039G>A	p.Trp680X	Nonsense	DGGE
4	17	c.2039G>A	p.Trp680X	Nonsense	17	c.2039G>A	p.Trp680X	Nonsense	Sequencing
5	6	c.643G>A	p.Asp215Asn	Missense	6	c.643G>A	p.Asp215Asn	Missense	DGGE
6	6	c.643G>A	p.Asp215Asn	Missense	6	c.643G>A	p.Asp215Asn	Missense	DGGE
7	7	c.753_756delCAGA	p.Asp251fs	Frameshift	7	c.753_756delCAGA	p.Asp251fs	Frameshift	DGGE
8	6	c.655A>G	p.Asn219Asp	Missense	35	c.4529dupA	p.Tyr1510X	Nonsense	Sequencing
9	35	c.4529dupA	p.Tyr1510X	Nonsense	35	c.4529dupA	p.Tyr1510X	Nonsense	DGGE
10	3	c.16C>T	p.Gln6X	Nonsense	3	c.16C>T	p.Gln6X	Nonsense	DGGE
11	11	c.1222C>T	p.Arg408X	Nonsense	15	c.1877A>G	p.His626Arg	Missense	Sequencing
12	9	c.1027C>T	p.Arg343Trp	Missense	Intron 32	c.4260-12A>G		Splice	Sequencing
13	30	c.3911delA	p.Asn1304fs	Frameshift	30	c.3911delA	p.Asn1304fs	Frameshift	Sequencing
14	30	c.3911delA	p.Asn1304fs	Frameshift	30	c.3911delA	p.Asn1304fs	Frameshift	Sequencing