DOI: 10.1055/s-00029027

Journal of Pediatric Genetics

References

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 (05) 383-387

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