Table 1.

Frequency of the different mutations observed in our sample

Mutations Allele 1 Allele 2		N° of pts.	%
c.-32-13T > G (N = 85)	c.525delT	21	24,7
	c.2237G > A	13	15,3
	Delexon18*	7	5,8
	c.1927G > A	5	5,8
	Very severe (VS)	13	17,6
	Potentially less severe (PLS)	26	30,5

*Delexon18 is also referred in the literature as c.2481 + 102_2646 + 31del.