Novel frameshift mutation 840delA and a novel polymorphism D203A in the steroidogenic acute regulatory protein gene in a Japanese patient with congenital lipoid adrenal hyperplasia.

Katsumata, N

Novel frameshift mutation 840delA and a novel polymorphism D203A in the steroidogenic acute regulatory protein gene in a Japanese patient with congenital lipoid adrenal hyperplasia. [electronic resource] - Human mutation 1998 - S304-7 p. digital

Publication Type: Case Reports; Journal Article

1059-7794

10.1002/humu.1380110195 doi


Adrenal Hyperplasia, Congenital--genetics
Adult
Amino Acid Sequence
Amino Acid Substitution
Base Sequence
DNA--chemistry
DNA Mutational Analysis
Female
Frameshift Mutation
Humans
Japan
Phosphoproteins--genetics
Point Mutation
Polymorphism, Genetic
Sequence Deletion
Steroidogenic Acute Regulatory Protein