Carbonic anhydrase II deficiency syndrome)osteopetrosis with renal tubular acidosis and brain calcification):Novel mutations in CA2 identified by direct sequencing expand the opportunity for genotype-phenotype correlation / Shah, G; Bonapace, G; Hu, Py; Strisciuglio, Pietro; Sly, Ws. - In: HUMAN MUTATION. - ISSN 1059-7794. - STAMPA. - #737 on line:(2004), pp. 272-280.
Carbonic anhydrase II deficiency syndrome)osteopetrosis with renal tubular acidosis and brain calcification):Novel mutations in CA2 identified by direct sequencing expand the opportunity for genotype-phenotype correlation
STRISCIUGLIO, PIETRO;
2004
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