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In situ hybridisation and quantitative
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Isolation and characterisation of a major tandem repeat family from t,he human
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Hunter syndrome: isolation of an iduronate-2-sulfatase cDNA clone and analysis of patient DNA.Proceedings of the National Academy of Sciences of the United States of America, 87
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Detection of gross deletions and point mutations in six Hunter syndrome patients
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Isolation and characterisation of a major tandem repeat family from t , he human X chromosome
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Summary Deficiency of the lysosomal enzyme α‐iduronate sulphate sulphatase (IDS) causes the clinical manifestations of Hunter syndrome, an X‐linked condition. In about 30% of male patients, the disease is due to a major deletion. Using a non‐isotopic in situ hybridization (NISH) method, and a yeast artificial chromosome (YAC) probe, the Hunter gene was mapped to the terminal region of the human X chromosome, close to the Xq28 band. The NISH procedure was then applied to investigate the carrier status of female relatives of a Hunter patient known to have a deletion of the IDS gene. Unequivocal evidence that two female relatives were carriers of the deletion was obtained, demonstrating that the NISH method is a valuable diagnostic tool in genetic counselling of families with Hunter patients.
Annals of Human Genetics – Wiley
Published: May 1, 1992
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