CFTR+PRSS1+SPINK1 gene mutations

Clinical significance

• see CFTR, PRSS1 & SPINK1

More general terms

• gene mutation testing; gene mutation analysis

Additional terms

• cystic fibrosis transmembrane conductance regulator; CFTR; cAMP-dependent chloride channel; ATP-binding cassette transporter sub-family C member 7 (CFTR ABCC7)
• serine protease inhibitor Kazal-type 1; pancreatic secretory trypsin inhibitor; tumor-associated trypsin inhibitor; TATI (SPINK1, PSTI)
• trypsin-1; beta-trypsin; cationic trypsinogen; serine protease 1; trypsin I; contains: alpha-trypsin chain 1, alpha-trypsin chain 2 (PRSS1, TRP1, TRY1, TRYP1)