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Erythrocyte AMP deaminase deficiency

MedGen UID:
416697
•Concept ID:
C2752073
•
Disease or Syndrome
Synonym: Erythrocyte Amp Deaminase Deficiency
 
Gene (location): AMPD3 (11p15.4)
 
OMIM®: 612874

Definition

Complete deficiency of erythrocyte AMP deaminase is a clinically benign disorder (Ogasawara et al., 1987; Zydowo et al., 1989). [from OMIM]

Recent clinical studies

Etiology

A point mutation responsible for human erythrocyte AMP deaminase deficiency.
Yamada Y, Goto H, Ogasawara N
Hum Mol Genet 1994 Feb;3(2):331-4. doi: 10.1093/hmg/3.2.331. PMID: 8004104

Diagnosis

A point mutation responsible for human erythrocyte AMP deaminase deficiency.
Yamada Y, Goto H, Ogasawara N
Hum Mol Genet 1994 Feb;3(2):331-4. doi: 10.1093/hmg/3.2.331. PMID: 8004104

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    • OMIM(Genes)
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