Table 2.

Three C6 deficiency mutations in seven unrelated individuals of North or Central Africa descent who live in France

Common name	Location of the defect	Number of affected chromosomes	Notes	No. of affected chromosomes described previously in C6-deficient individuals
C6Q0/1936delG	Exon 12	10	Frame shift and premature termination codon 9nucleotides downstream	5 ([9], [11], [12], and [13])
C6Q0/1195delC	Exon 7	3	Frame shift generating 63 novel amino acids andtermination codon in exon 9	8 ([11] and [13])
C6Q0/878delA	Exon 6	1	Frame shift generating 45 novel amino acids andtermination codon in exon 7	3 ([9])