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Fig. 1 | Italian Journal of Pediatrics

Fig. 1

From: Novel mutation in carnitine palmitoyltransferase 1A detected through newborn screening for a presymptomatic case in China: a case report

Fig. 1

(A) Pedigree chart of the family. (B) CPT1A Gene in genomic location:11q13.3 (C-H) Consequence of DNA analysis: (C) The patient carrying 2201 T > C mutation. (D) His father carrying 2201 T > C mutation. (E) His mother: normal. (F) The patient carrying 1318 T > C mutation. (G) His father: normal. (H) His mother carrying 1318 T > C mutation. (I) Multiple species alignment analysis showed the high evolutionary conservation of amino acid sequence at the mutation site

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Italian Journal of Pediatrics

ISSN: 1824-7288

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