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- humu.9266 author "Shah GN, Bonapace G, Hu PY, Strisciuglio P, Sly WS".
- humu.9266 date "September 2004".
- humu.9266 doi "10.1002/humu.9266".
- humu.9266 isCitedBy Renal_tubular_acidosis.
- humu.9266 issue "3".
- humu.9266 journal "Hum. Mutat.".
- humu.9266 pages "272".
- humu.9266 pmid "15300855".
- humu.9266 title "Carbonic anhydrase II deficiency syndrome : novel mutations in CA2 identified by direct sequencing expand the opportunity for genotype-phenotype correlation".
- humu.9266 volume "24".