PMC4722683_01
Genetic screening of the PAH-causing genes in the index patient and the parent. Panel (a) shows normal nucleotide fragment of BMP9 with corresponding amino acids underneath. Panel (b) identifies the homozygous nonsense mutation at nucleotide position 76 (c.76C > T) in the exon 1 of the BMP9 gene (NM_0016204.1), which causes the amino acid change from glutamine to tryptophan at peptide position of 26 (p.Gln26Ter) in the index patient. Panel (c) shows the heterozygous nonsense mutation at nucleotide position 76 (c.76C > T) in the exon 1 of the BMP9 gene (NM_0016204.1) found in the parent
12890_2016_183_Fig1_HTML.jpg
PMC4722683_01_12890_2016_183_Fig1_HTML.jpg
Fig1
T) of the BMP9/GDF2 gene (Fig. 1).