-transparent.png){kind=logo}
Three cDNA clones with inserts of 1.2-1.6 kb that reacted both with antibodies and oligonucleotides specific for steroid sulfatase were isolated from a human placental library in lambda gt11. The 5'-end of one of the inserts, STS-3, was sequenced and colinearity with the amino acid sequence of 3 peptides of steroid sulfatase encompassing 64 amino acids was demonstrated. STS-3 hybridized with 2.5, 4.6 and 6.3 kb species in poly(A)+RNA and with 2.5, 4 and 9 kb fragments of EcoRI digested human DNA. The frequency of the EcoRI fragments in DNA from females was approximately twice that in DNA from males. DNA from two patients with steroid sulfatase deficiency and X-linked ichthyosis did not hybridize with STS-3. DNA from a third patient showed a normal hybridization pattern. It is concluded that steroid sulfatase deficiency is a genetically heterogenous disorder.
J T Conary, and
G Lorkowski, and
B Schmidt, and
R Pohlmann, and
G Nagel, and
H E Meyer, and
C Krentler, and
J Cully, and
A Hasilik, and
K von Figura
November 1988,
Biochemical and biophysical research communications,
J T Conary, and
G Lorkowski, and
B Schmidt, and
R Pohlmann, and
G Nagel, and
H E Meyer, and
C Krentler, and
J Cully, and
A Hasilik, and
K von Figura
August 1977,
Pediatric research,
J T Conary, and
G Lorkowski, and
B Schmidt, and
R Pohlmann, and
G Nagel, and
H E Meyer, and
C Krentler, and
J Cully, and
A Hasilik, and
K von Figura
November 1985,
Obstetrics and gynecology,
J T Conary, and
G Lorkowski, and
B Schmidt, and
R Pohlmann, and
G Nagel, and
H E Meyer, and
C Krentler, and
J Cully, and
A Hasilik, and
K von Figura
March 1986,
Biochemical and biophysical research communications,
J T Conary, and
G Lorkowski, and
B Schmidt, and
R Pohlmann, and
G Nagel, and
H E Meyer, and
C Krentler, and
J Cully, and
A Hasilik, and
K von Figura
June 2016,
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics,
J T Conary, and
G Lorkowski, and
B Schmidt, and
R Pohlmann, and
G Nagel, and
H E Meyer, and
C Krentler, and
J Cully, and
A Hasilik, and
K von Figura
March 2006,
Pediatric neurology,
J T Conary, and
G Lorkowski, and
B Schmidt, and
R Pohlmann, and
G Nagel, and
H E Meyer, and
C Krentler, and
J Cully, and
A Hasilik, and
K von Figura
October 2002,
The Journal of investigative dermatology,
J T Conary, and
G Lorkowski, and
B Schmidt, and
R Pohlmann, and
G Nagel, and
H E Meyer, and
C Krentler, and
J Cully, and
A Hasilik, and
K von Figura
November 1976,
American journal of obstetrics and gynecology,
J T Conary, and
G Lorkowski, and
B Schmidt, and
R Pohlmann, and
G Nagel, and
H E Meyer, and
C Krentler, and
J Cully, and
A Hasilik, and
K von Figura
February 1998,
Acta paediatrica Japonica : Overseas edition,
J T Conary, and
G Lorkowski, and
B Schmidt, and
R Pohlmann, and
G Nagel, and
H E Meyer, and
C Krentler, and
J Cully, and
A Hasilik, and
K von Figura
December 2016,
Molecular and cellular endocrinology,
