Now showing items 1-10 of 28
Synthesis of normal and variant human hypoxanthine-guanine phosphoribosyltransferase in Escherichia coli
(Elsevier, 1993-01-30)
Naturally occurring mutations in hypoxanthine-guanine phosphoribosyltransferase (HPRT) have been identified by amino acid sequencing, cDNA cloning, and direct nucleotide sequencing of PCR-amplified transcripts. To determine ...
Characterization of the genes encoding carbonic anhydrase I of chimpanzee and gorilla: comparative analysis of 5' flanking erythroid-specific promoter sequences
(Elsevier, 1993-09-15)
The genes encoding carbonic anhydrase I (CA I) have been characterized for chimpanzee (Pan troglodytes) and gorilla (Gorilla gorilla). In addition, 44 nucleotides (nt) at the 5' end of the noncoding first exon (exon la), ...
mnd2: A New Mouse Model of Inherited Motor Neuron Disease
(Elsevier, 1993-06)
The autosomal recessive mutation mnd2 results in early onset motor neuron disease with rapidly progressive paralysis, severe muscle wasting, regression of thymus and spleen, and death before 40 days of age. mnd2 has been ...
Molecular Characterization of the Murine Neural Retina Leucine Zipper Gene, Nrl
(Elsevier, 1993-11)
The NRL gene (D14S46E) is expressed in cells of human retina and encodes a putative DNA-binding protein of the leucine zipper family. Here we describe the analysis of the murine homolog of the NRL gene, Nrl. Various cDNAs ...
Human PCK1 Encoding Phosphoenolpyruvate Carboxykinase Is Located on Chromosome 20q13.2
(Elsevier, 1993-01)
Cytoplasmic liver phosphoenolpyruvate carboxykinase (GTP)(PEPCK) catalyzes a rate-limiting step in gluconeogenesis. Primers derived from the rat liver PEPCK sequence were used to amplify a portion of the human liver cDNA ...
Genetic and Physical Map of 11 Short Tandem Repeat Polymorphisms on Human Chromosome 6
(Elsevier, 1993-01)
A linkage map of 11 short tandem repeat polymorphisms was constructed for human chromosome 6. The order from p to qter was F131-D6S105-D6S254-D6S251-D6S252-D6S249-(ARG1-D6S87)-D6S250-D6S255-D6S253. For the region spanned ...
Phosphoenolpyruvate Carboxykinase (GTP): Characterization of the Human PCK1 Gene and Localization Distal to MODY on Chromosome 20
(Elsevier, 1993-06)
The human PCK1 gene encoding phosphoenolpyruvate carboxykinase (GTP) (PEPCK) was isolated and sequenced. There is 91% amino acid sequence identity (567/622 residues) between the human and the rat proteins, with conservation ...
A test of the equal-environment assumption in twin studies of psychiatric illness
(Kluwer Academic Publishers-Plenum Publishers; Plenum Publishing Corporation ; Springer Science+Business Media, 1993-01)
The traditional twin method is predicated on the equal-environment assumption (EEA)—that monozygotic (MZ) and dizygotic (DZ) twins are equally correlated in their exposure to environmental events of etiologic importance ...
Quantitative structure-activity relationships for the mutagenicity of propylene oxides with Salmonella
(Elsevier, 1993-04)
A quantitative structure-activity relationship approach was used to investigate the mutagenicity of a series of seventeen-monosubstituted propylene oxides in Salmonella typhimurium strains TA100 and TA1535. Mutagenicity ...