Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 5 of 5 for “"CARRIER DETECTION"”.
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Carrier detection in Duchenne muscular dystrophy
The identification of apparently healthy carriers of the lethal, X- linked gene for Duchenne muscular dystrophy (DMD) is of importance for genetic counselling purposes. At present the accepted most reliable test for determining DMD carrier status is the estimation of serum creatine kinase activity. …
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ΜΕΛΕΤΗ ΠΑΡΑΛΛΑΓΩΝ ΚΑΙ ΕΛΕΓΧΟΣ ΦΟΡΕΩΝ ΑΙΜΟΡΡΟΦΙΛΙΑΣ Β ΣΤΗΝ ΕΛΛΑΔΑ
… 22 HAEMOPHILICS AND 61 RELATIVES WERE STUDIED. CARRIER DETECTION INASYMPTOMATIC FEMALE POSSIBLE CARRIERS WAS PERFORMED WITH CONVENTIONAL IMMUNOLOGICAL TECHNIQUES FOR EVALUATION OF THE PHENOTYPE AND WITH RESTRICTION FRAGMENT LENGTH POLYMORPHIN FOR EVALUATION OF THE DEFECT AT THE MOLECULAR LEVEL. …
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Pseudoxanthoma elasticum in Southern Africa ; by Denis Lowe Viljoen
… of my observations, antenatal diagnosis and carrier detection are likely to be feasible in the foreseeable future.
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Profound childhood deafness in South Africa : a clinical and molecular genetic approach
… families in terms of pre-natal diagnosis and the detection of asymptomatic gene carriers. In the major theme of the project, twenty-two affected families with sclerosteosis were ascertained and the SCL gene was localised by homozygosity mapping to the long arm of chromosome 1 7 at 17q12-17q21 …