Seven novel mutations in carbonic anhydrase II deficiency syndrome identified by SSCP and direct sequencing analysis.

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Hu PY, Lim EJ, Ciccolella J, Strisciuglio P, Sly WS

Seven novel mutations in carbonic anhydrase II deficiency syndrome identified by SSCP and direct sequencing analysis.

Hum Mutat. 1997;9(5):383-7.

PubMed ID
9143915 [ View in PubMed
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DrugBank Data that Cites this Article

Polypeptides
NameUniProt ID
Carbonic anhydrase 2P00918Details