passages.id: split_6_test_1192_passage
passages.type: progene_text
passages.text: Whereas patient 1 with severe phenotype had a homozygous nonsense mutation in exon 1 ( C - 35 --> T , Gln -3 --> stop ) , patients 2 and 3 with mild phenotype shared the same homozygous missense mutation in exon 2 ( G-98 --> A , Gly-24 --> Arg ) .