Browsing Τμήμα Βιολογικών Επιστημών / Department of Biological Sciences by Subject "failure to thrive"
Now showing items 1-3 of 3
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Molecular investigation and long-term clinical progress in Greek Cypriot families with recessive distal renal tubular acidosis and sensorineural deafness due to mutations in the ATP6V1B1 gene
(2006)The spectrum of distal renal tubular acidosis (dRTA) includes a genetically heterogeneous group of inherited conditions of both autosomal-dominant and recessive mode of inheritance. The basic defect islinked to the renal ...
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Novel cystic fibrosis mutation associated with mild disease in Cypriot patients
(1994)Cyprus is an island in the eastern Mediter-ranean basin inhabited by people of Caucasian extraction, mostly Greek-Cypriots. The most common inherited disease among Caucasians is cystic fibrosis (CF). Although no careful ...