After complete sequence analysis of all coding regions within the locus, they found a single disease-segregating mutation, P222L, within the stress-response gene PRKRA.

• 他们对这些位置的所有基因编码之后的完整后续分析，发现一个单一疾病隔离突变-P222L，位置在压力反应基因PRKRA之内。