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Keywords: arteriovenous malformations
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Clin Sci (Lond) (1998) 94 (3): 207–218.
Published: 01 March 1998
... deaminase deficiency. Autosomal recessive inheritance of two mutations in the adenosine deaminase gene was demonstrated. Enzyme replacement therapy improved the patients' immunological and clinical status. 3. Individuals with pulmonary arteriovenous malformations were used to identify families...