Fig. 2
From: Genetic aetiology of primary adrenal insufficiency in Chinese children
Transcripts of wild-type and mutant (c.399 + 1G > A) AAAS. a Agarose gel electrophoresis of the proband, the parents and healthy controls. b Sequencing of the purified band. The front band lacks exon 4. c Transcripts and translation of wild-type AAAS and mutant AAAS. The exon 4 skipping resulted in a premature stop codon and truncated ALADIN protein