TY  - GEN
AU  - Flachsová,E
AU  - Verma,I C
AU  - Ulbrichová,D
AU  - Saxena,R
AU  - Zeman,J
AU  - Saudek,V
AU  - Raman,C S
AU  - Martásek,P
TI  - A new mutation within the porphobilinogen deaminase gene leading to a truncated protein as a cause of acute intermittent porphyria in an extended Indian family
SN  - 0015-5500
PY  - 2008///0116
KW  - Amino Acid Sequence
KW  - Base Sequence
KW  - DNA Mutational Analysis
KW  - Electrophoresis, Polyacrylamide Gel
KW  - Family
KW  - Female
KW  - Heme
KW  - metabolism
KW  - Humans
KW  - Hydroxymethylbilane Synthase
KW  - chemistry
KW  - India
KW  - Male
KW  - Middle Aged
KW  - Molecular Sequence Data
KW  - Mutant Proteins
KW  - Mutation
KW  - genetics
KW  - Pedigree
KW  - Porphyria, Acute Intermittent
KW  - enzymology
KW  - Protein Structure, Secondary
KW  - Recombinant Fusion Proteins
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
ER  -