DOI:
10.1055/s-00029027
Journal of Pediatric Genetics
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References
Soda H, Yukizane S, Yoshida I, Koga Y, Aramaki S, Kato H.
A point mutation in exon 3 (His 107-->Tyr) in two unrelated Japanese patients with carbonic anhydrase II deficiency with central nervous system involvement.
Hum Genet 1996;
97 (04) 435-437
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