(Q33191087)
Statements
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Novel deletion and a new missense mutation (Glu 217 Lys) at the catalytic site in two adenosine deaminase alleles of a patient with neonatal onset adenosine deaminase- severe combined immunodeficiency (English)
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R Hirschhorn
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M N Nicknam
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F Eng
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D R Yang
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W Borkowsky
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1 November 1992
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1 reference