Fig. 2
Sanger sequencing showed a heterozygous nonsense mutation (c.1960C > T, p.Gln654X in exon 11) in the patient, and the parents were normal. Black arrows, mutant bases
Fig. 2 | BMC Medical Genetics
Sanger sequencing showed a heterozygous nonsense mutation (c.1960C > T, p.Gln654X in exon 11) in the patient, and the parents were normal. Black arrows, mutant bases