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Fig. 3 | Orphanet Journal of Rare Diseases

Fig. 3

From: Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates

Fig. 3

The mutation frequency in carriers and biochemical index of ASS1 and MCCC1 carriers. a The numbers of variants in carriers. b The distribution of high frequency gene mutations in carriers. c Cit concentration in ASS1 gene mutation carriers and negative control. d C4DC + C5OH concentration in MCCC1 gene mutation carriers and negative control

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172