Fig. 1: Identification of compound heterozygous mutations in the NBAS gene in the patient and her family. | Human Genome Variation

Fig. 1: Identification of compound heterozygous mutations in the NBAS gene in the patient and her family.

From: A novel variant in NBAS identified from an infant with fever-triggered recurrent acute liver failure disrupts the function of the gene

Fig. 1: Identification of compound heterozygous mutations in the NBAS gene in the patient and her family.The alternative text for this image may have been generated using AI.

a, b Family pedigree. The patient’s mother carried the c.1342 T > C (p.Cys448Arg) missense mutation in one NBAS allele, whereas the patient’s father carried the c.938_939delGC frameshift mutation. c Sanger sequence analysis confirmed the segregation of two NBAS mutations: NBAS c.938_939delGC and c.1342 T > C (p.Cys448Arg) in this family. d The c.1342 T > C (p.Cys448Arg) mutation affects evolutionarily conserved amino acid residues in multiple species.

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