Gastroenterology

• Acute intermittent porphyria (deletion/duplication analysis on HMBS gene) + info
   
• Acute porphyrias (sequence analysis of CPOX, PPOX and HMBS genes) + info
   
• Acyl-CoA dehydrogenase 9 deficiency (sequence analysis of ACAD9 gene) + info
   
• Arthrogryposis distal (sequence analysis of PIEZO2 gene) + info
   
• Arthrogryposis distal type 7 (sequence analysis of MYH8 gene) + info
   
• Autosomal recessive early-onset inflammatory bowel disease (deletion/duplicaction analysis on TTC7A gene) + info
   
• Autosomal recessive early-onset inflammatory bowel disease (sequence analysis of TTC7A gene) + info