Search Results - "LOVEGROVE, J. U"
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C-antineutrophil cytoplasmic antibody positivity in vasculitis patients is associated with the Z allele of alpha-1-antitrypsin, and P-antineutrophil cytoplasmic antibody positivity with the S allele
Published in Nephrology, dialysis, transplantation (01-03-1996)“…Antineutrophil cytoplasmic antibodies (ANCA) in vasculitis have either cANCA or pANCA patterns as defined by immunofluorescence. The target autoantigen of…”
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Mapping Recombination Hotspots in Human Phosphoglucomutase (PGM1)
Published in Human molecular genetics (01-09-1999)“…Human phosphoglucomutase (PGM1) is a highly polymorphic protein. Three mutations and four intragenic recombination events between the three mutation sites…”
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A phylogenetic approach to the identification of phosphoglucomutase genes
Published in Molecular biology and evolution (01-04-1998)“…The expanding molecular database provides unparalleled opportunities for characterizing genes and for studying groups of related genes. We use sequences drawn…”
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The Classical Human Phosphoglucomutase (PGM1) Isozyme Polymorphism is Generated by Intragenic Recombination
Published in Proceedings of the National Academy of Sciences - PNAS (15-11-1993)“…The molecular basis of the classical human phosphoglucomutase 1 (PGM1) isozyme polymorphism has been established. In 1964, when this genetic polymorphism was…”
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A new alpha 1-antitrypsin mutation, Thr–Met 85, (PI Zbristol) associated with novel electrophoretic properties
Published in Annals of human genetics (01-09-1997)“…A new AAT allele (PI Zbristol) has been discovered in a woman with an obstetric history of three perinatal deaths from fulminant liver disease and no living…”
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Molecular and cytological investigations of phosphoglucomutase (PGM1) in the K562 cell line
Published in Annals of human genetics (01-03-1997)“…Phosphoglucomutase 1 (PGM1) deficiency is a stable characteristic of the erythroleukaemic cell line, K562, whereas the activity of the isozymes of the other…”
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α1-Antitrypsin deficiency alleles and the Taq-I G→A allele in cystic fibrosis lung disease
Published in The European respiratory journal (1998)Get full text
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Prenatal diagnosis of alpha-1-antitrypsin deficiency by PCR of linked polymorphisms: a study of 17 cases
Published in Prenatal diagnosis (01-04-1992)“…We describe our experiences of prenatal diagnosis of alpha-1-antitrypsin deficiency using closely linked polymorphisms detected by Southern blotting and the…”
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Phosphoglucomutase 1: Complete Human and Rabbit mRNA Sequences and Direct Mapping of this Highly Polymorphic Marker on Human Chromosome 1
Published in Proceedings of the National Academy of Sciences - PNAS (01-01-1992)“…A cDNA clone encoding the mRNA for the highly polymorphic human enzyme phosphoglucomutase 1 (PGM1; EC 5.4.2.2) has been isolated and characterized. This was…”
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Genetic studies on a new deficiency gene (PIZtun) at the PI locus
Published in Journal of medical genetics (01-12-1989)“…During a study of the alpha 1 antitrypsin (AAT) protein and its locus (PI) by high resolution isoelectric focusing and direct molecular analysis of 106 PIZ…”
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Variation in alpha-1-antitrypsin phenotypes associated with penicillamine therapy
Published in Clinica chimica acta (13-01-1989)“…During a detailed study of alpha-1-antitrypsin (AAT) by isoelectric focusing, of 130 individuals of the PiZ phenotype and their families, an unusual…”
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A new alpha 1‐antitrypsin mutation, Thr–Met 85, (PI Zbristol) associated with novel electrophoretic properties
Published in Annals of human genetics (01-09-1997)“…A new AAT allele (PI Zbristol) has been discovered in a woman with an obstetric history of three perinatal deaths from fulminant liver disease and no living…”
Get full text
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Alpha1-antitrypsin deficiency alleles and the Taq-I G-->A allele in cystic fibrosis lung disease
Published in The European respiratory journal (01-04-1998)“…Cystic fibrosis (CF) is characterized by progressive and ultimately fatal pulmonary disease although there are notable variations in clinical features. This…”
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'SZ like' alpha 1-antitrypsin phenotypes in PI ZZ children with liver disease
Published in Annals of human genetics (01-01-1994)“…Using high resolution isoelectric focusing, alpha 1-antitrypsin phenotypes were studied in 106 individuals of the PI ZZ genotype including 71 with liver…”
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C-antineutrophil cytoplasmic antibody positivity in vasculitis patients is associated with the Z allele of alpha-1-antitrypsin, and P-antineutrophil cytoplasmic antibody positivity with the S allele
Published in Nephrology, dialysis, transplantation (01-03-1996)“…Background. Antineutrophil cytoplasmic antibodies (ANCA) in vasculitis have either cANCA or pANCA patterns as defined by immunofluorescence. The target…”
Get full text
Journal Article -
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Prenatal diagnosis of alpha-1-antitrypsin deficiency by PCR of linked polymorphisms: a study of 17 cases
Published in Prenatal diagnosis (01-06-1993)Get more information
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Genetic studies on a new deficiency gene (PI super()Z) sub(tun)) at the PI locus
Published in Journal of medical genetics (01-01-1989)“…During a study of the alpha sub(1) antitrypsin (AAT) protein and its locus (PI)) by high resolution isoelectric focusing and direct molecular analysis of 106…”
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