Now showing items 11-20 of 23
Screening for steroid sulfatase (STS) gene deletions by multiplex DNA amplification
(Springer-Verlag, 1990-05)
Deletions are the most common molecular defect in steroid sulfatase (STS) deficiency. We describe the application of multiplex DNA amplification, by polymerase chain reaction, for deletion screening in patients with STS ...
DNA strand breaks in liver for four aliphatic epoxides in mice
(Elsevier, 1990-11)
Four aliphatic epoxides, 1-naphthyl glycidyl ether (NGE), 1-naphthylpropylene oxide (NPO), 4-nitrophenyl glycidyl ether (NPGE), 3,3,3-trichloropropylene oxide (TCPO) and two of their precursors, 1-allylnaphthalene (AN) and ...
On the asymmetry of biological frequency distributions
(Wiley Subscription Services, Inc., A Wiley Company, 1990)
The long-standing problem of determining whether the skewness in a sample frequency distribution is the manifestation of the intermixing of disparate groups characterizable by a normal mixture distribution or the manifestation ...
The Pit-1 transcription factor gene is a candidate for the murine Snell dwarf mutation
(Elsevier, 1990-11)
Two nonallelic mouse mutations with severe dwarf phenotypes are characterized by a lack of growth hormone, prolactin, and thyroid stimulating hormone. The cells that normally synthesize these pituitary hormones express a ...
Physical maps of 4p16.3, the area expected to contain the Huntington disease mutation
(Elsevier, 1990-01)
The gene for Huntington disease, a neurodegenerative disorder with autosomal dominant inheritance, has been localized to the terminal portion of the short arm of human chromosome 4 (4p16.3) by linkage analysis. Since ...
The human homolog of murine Evi-2 lies between two von Recklinghausen neurofibromatosis translocations
(Elsevier, 1990-08)
Von Recklinghausen neurofibromatosis (NF1) is one of the most common inherited human disorders. The genetic locus that harbors the mutation(s) responsible for NF1 is near the centromere of chromosome 17, within band q11.2. ...
Commingling and segregation analyses: Comparison of results from a simulation study of a quantitative trait
(Wiley Subscription Services, Inc., A Wiley Company, 1990)
Commingling analysis is commonly used to provide preliminary evidence for a single genetic locus with a major effect on the quantitative trait of interest. In this paper, the effectiveness of commingling analysis as a ...
DXS165 detects a translocation breakpoint in a woman with choroideremia and a de novo X; 13 translocation
(Elsevier, 1990-04)
The search for the gene for choroideremia (MIM 30310), a rare retinal dystrophy, has been of great interest due to the existence of several choroideremia patients with well-defined structural chromosome aberrations, thus ...