1,721,039 research outputs found
Clinical and molecular heterogeneity in carbonic anhydrase II deficiency and prenatal diagnosis in italian family
No full textSuccesful DNA-based Prenatal diagnosis of the 728+1gt mutation at the Exon 6 intron junction in the carbonic anhydrase II gene
No full textVariable clinical presentation of carbonic anhydrase deficiency:evidence for heterogeneity?
No full textClinical and molecular heterogeneity in carbonic anhydrase II deficiency and prenatal diagnosis in italian family
No full textCarbonic 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
No full textSeven novel mutation in carbonic anhydrase II deficiency syndrome identified by SSCP and direct sequencing analysis
No full textSeven novel mutation in carbonic anhydrase II deficiency syndrome identified by SSCP and direct sequencing analysis
No full textCarbonic anhydrase II deficiency: diagnosis and carrier detection using differential enzyme inhibition and inactivation
No full textSuccesful DNA-based Prenatal diagnosis of the 728+1gt mutation at the Exon 6 intron junction in the carbonic anhydrase II gene
No full textCarbonic anhydrase II deficiency: diagnosis and carrier detection using differential enzyme inhibition and inactivation
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