PCR diagnosis of X-linked ichthyosis: identification of a novel mutation (E560P) of the steroid sulfatase gene.

Human mutation

Volumn 15, Issue 3, 2000, Pages 296-

  Sugawara, T ^a   Shimizu, H ^a   Hoshi, N ^a   Fujimoto, Y ^a   Nakajima, A ^a   Fujimoto, S ^a  

^a Department of Biochemistry ^*

Author keywords

[No Author keywords available]

Indexed keywords

ARYLSULFATASE; ESTRIOL; STERYL SULFATASE;

AMINO ACID SUBSTITUTION; ANIMAL; ARTICLE; CELL STRAIN COS1; ENZYMOLOGY; FEMALE; FETUS; GENETIC TRANSFECTION; GENETICS; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; ICHTHYOSIS; LYMPHOCYTE; MALE; MISSENSE MUTATION; NEWBORN; PLACENTA; POLYMERASE CHAIN REACTION; PREGNANCY; SITE DIRECTED MUTAGENESIS; URINE; X CHROMOSOME;

AMINO ACID SUBSTITUTION; ANIMALS; ARYLSULFATASES; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; COS CELLS; ESTRIOL; FEMALE; FETUS; HUMANS; ICHTHYOSIS; INFANT, NEWBORN; LYMPHOCYTES; MALE; MUTAGENESIS, SITE-DIRECTED; MUTATION, MISSENSE; PLACENTA; POLYMERASE CHAIN REACTION; PREGNANCY; STERYL-SULFATASE; TRANSFECTION; X CHROMOSOME;

MLCS; MLOWN;

EID: 0034146743     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/(sici)1098-1004(200003)15:3<296::aid-humu17>3.0.co;2-%23     Document Type: Article

References (0)