Condition: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3


rs779869368 in CA2 gene and OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3 PMID 8128957 1994 Carbonic anhydrase II deficiency: single-base deletion in exon 7 is the predominant mutation in Caribbean Hispanic patients.

rs573750741 in CA2;CA3-AS1 gene and OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3 PMID 1301935 1992 A splice junction mutation in intron 2 of the carbonic anhydrase II gene of osteopetrosis patients from Arabic countries.