Table 1.

Primer sequences and PCR conditions applied in this study.

	Studied exon(s)	Primer	Product size (bp)	Applied enzyme	Tm
Primers for PCR	1–2	F: 5' TTGAGGAATAACGGAGGTGAG 3' R: 5' AGGAGGAGTAGGCTGAGAAAA 3'	1,278	GoTaq	59°C
	3	F: 5' GTACTAGCCAAGCAAGTGAGTC 3' R: 5' AGCAATCGTGCCTATTACATC 3'	1,082	GoTaq	59°C
	4	F*: 5' ATACCCTCCATTCCAGCCTGGTC 3' R*: 5' CTTCACCTGCTCTGCAGTCCATC 3'	368	GoTaq	59°C
	5–6	F: 5' CACCATGCCGTATTCACTAA 3' R: 5' AGGGTGGAAATACAGATGGAAG 3'or R: 5' TCCCTCCCTACTCATCAAAC 3'	798	GoTaq	59°C
	7	F: 5' TCAGTGGTGGAGTCAGGGTA 3' R: 5' CCAATGGGATAATAGCACCTAC 3'	631	GoTaq	59°C
	8	F: 5' CTGCCAGAGGGTACAGTATGT 3' R: 5' GAGATGGGAGGATTGTTTGA 3'	823	GoTaq	59°C
Primers for sequencing	1–2	F: 5' CCCCGTTCACCCCACCTACCA 3' or F: 5' TTGAGGAATAACGGAGGTGAG 3' R*: 5' GCCTGAAGGGTTAATCCTCAGCCA 3'
	3	F: 5' TGGTGGTGGTTCTAAGACAGATT 3' R: 5' AGAGGCATGGCTTTGTAAGTG 3'
	4	F*: 5' ATACCCTCCATTCCAGCCTGGTC 3' R*: 5' CTTCACCTGCTCTGCAGTCCATC 3'
	5–6	F: 5' CTCAAATCGTGCTCATGGAA 3' R: 5' AGGGTGGAAATACAGATGGAAG 3' or R: 5' TCCCTCCCTACTCATCAAAC 3'
	7	F: 5' TCAGTGGTGGAGTCAGGGTA 3' R: 5' CCAATGGGATAATAGCACCTAC 3'
	8	F: 5' GGCAAACAAGGGAAGAGGAAG 3' R: 5' AGCCTGGGTGACAGATTGAGA 3'
Primers for long PCR	1–3	F: 5' TGCACTGGAGCTGCCTGGTGA 3' R: 5' AGAGGCATGGCTTTGTAAGTG 3'	2,777	GoTaq	60°C
	3–5	F: 5' TGGTGGTGGTTCTAAGACAGATT 3' R: 5' GGAGGGTTGCTCTAATGCAG 3'	6,676	Phusion Flash	58°C
	5–7	F: 5' CACCATGCCGTATTCACTAA 3' R: 5' CCAATGGGATAATAGCACCTAC 3'	6,209	Phusion Flash	60°C
	7–8	F: 5' TCAGTGGTGGAGTCAGGGTA 3' R: 5' CACAGGGGTCAGAATCACCT 3'	5,289	Phusion Flash	62°C
	8	F: 5' GGCAAACAAGGGAAGAGGAAG 3' R: 5' TGCTAAAAACACCCTCCAAA 3'	6,310	Phusion Flash	60°C
Primers for the verification of exon 7 duplication	exon 7 MLPA probe hybridization site	F: 5' TACCAGGATCACCAAACTCAGAT 3' R: 5' CACAATCTGAGTTTGGTGATCCTG 3'		Phusion Flash	64°C

^*Based on primer sequences published in (14).

F, forward; R, reverse.