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Table 4 Quantification of wild-type and mutant CYP21A2 clones

From: Phenotype heterogeneity of congenital adrenal hyperplasia due to genetic mosaicism and concomitant nephrogenic diabetes insipidus in a sibling

 

Mother

S-1 (patient)

S-2

c.1069C >T,

p.R357W (Exon 8)

c.1360C >T, p.P454S (Exon 10)

c.1069C >T,

p.R357W (Exon 8)

c.1360C >T, p.P454S (Exon 10)

c.1069C >T,

p.R357W (Exon 8)

c.1360C >T, p.P454S (Exon 10)

Total clones

94

117

118

55

58

83

Wt clones

5

8

3

0

2

0

Mut clones

89

109

115

55

56

83

% of Wt clones

5.3%

6.8%

2.5%

0

3.4%

0

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BMC Medical Genetics

ISSN: 1471-2350

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