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In the present paper, we applied surface plasmon resonance (SPR) and biosensor technologies for biospecific interaction analysis (BIA) to detect ΔF508 mutation (F508del) of the cystic fibrosis transmembrane regulator (CFTR) gene in both homozygous as well as heterozygous human subjects. The...
GM1‐gangliosidosis is a lysosomal storage disease caused by a deficiency of acid β‐galactosidase. Three clinical forms are recognized—infantile, juvenile, and adult—based on age of onset and severity of the symptoms. We have performed molecular analysis of a large cohort of GM1 patients...
The major cause of homocystinuria is mutation of the gene encoding the enzyme cystathionine β‐synthase (CBS). Deficiency of CBS activity results in elevated levels of homocysteine as well as methionine in plasma and urine and decreased levels of cystathionine and cysteine. Ninety‐two...
The 5th International HUGO Mutation Database Meeting was held on 27th October 1998, in conjunction with the American Society of Human Genetics annual meeting in Denver, USA. Meeting highlights are described below. Hum Mutat 13:343, 1999. © 1999 Wiley‐Liss, Inc.
Congenital hyperinsulinism (CHI) is a disease phenotype characterized by increased, usually irregular, insulin secretion leading to hypoglycemia, coma, and severe brain damage, left untreated. Hyperinsulinism may be caused by a range of biochemical disturbances and molecular defects. In...
Using polymerase chain reaction, single‐stranded conformational polymorphism (SSCP), TaqI restriction analysis and direct sequencing, exons 1, 7, 8, 9, 12, 13, 14, 18, 22, 23, 24, and 26 of the factor VIII gene were screened for point mutations in 55 Slovenian haemophilia A patients. In...
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