Detection of point mutations and a gross deletion in six Hunter Syndrome patients
- 1 July 1992
- Vol. 13 (3) , 543-550
- https://doi.org/10.1016/0888-7543(92)90123-a
Abstract
No abstract availableKeywords
This publication has 24 references indexed in Scilit:
- Genetics and molecular biology of haemophilias A and BBlood Coagulation & Fibrinolysis, 1991
- Haemophilia B mutations in a complete Swedish population sample: a test of new strategy for the genetic counselling of diseases with high mutational heterogeneityBritish Journal of Haematology, 1991
- Detection of three novel mutations in two haemophilia A patients by rapid screening of whole essential region of factor VIII geneThe Lancet, 1991
- Human liver iduronate-2-sulphatase. Purification, characterization and catalytic propertiesBiochemical Journal, 1990
- Exon definition may facilitate splice site selection in RNAs with multiple exons.Molecular and Cellular Biology, 1990
- The incidence and distribution of CpG←Tpg transitions in the coagulation factor IX gene. A fresh look at CPG mutitional hospotsNucleic Acids Research, 1990
- Direct detection of point mutations by mismatch analysis: application to haemophilia BNucleic Acids Research, 1989
- Genetics of Hunter Syndrome: carrier detection, new mutations, segregation and linkage analysisAnnals of Human Genetics, 1986
- Detection of female carriers of hunter's syndrome: Comparison of serum and hair‐root analysisJournal of Inherited Metabolic Disease, 1982
- DNA methylation and the frequency of CpG in animal DNANucleic Acids Research, 1980