TY  - GEN
AU  - Katsumata,N
AU  - Tanae,A
AU  - Shinagawa,T
AU  - Nagashima-Miyokawa,A
AU  - Shimizu,M
AU  - Yasunaga,T
AU  - Tanaka,T
AU  - Hibi,I
TI  - 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
SN  - 1059-7794
PY  - 1999///0630
KW  - Adrenal Hyperplasia, Congenital
KW  - genetics
KW  - Adult
KW  - Amino Acid Sequence
KW  - Amino Acid Substitution
KW  - Base Sequence
KW  - DNA
KW  - chemistry
KW  - DNA Mutational Analysis
KW  - Female
KW  - Frameshift Mutation
KW  - Humans
KW  - Japan
KW  - Phosphoproteins
KW  - Point Mutation
KW  - Polymorphism, Genetic
KW  - Sequence Deletion
KW  - Steroidogenic Acute Regulatory Protein
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1002/humu.1380110195
ER  -