Carbonic anhydrase II deficiency syndrome (osteopetrosis with renal tubular acidosis and brain calcification): Novel mutations in CA2 identified by direct sequencing …

GN Shah, G Bonapace, PY Hu, P Strisciuglio… - Human …, 2004 - Wiley Online Library
The carbonic anhydrase II (CA II) deficiency syndrome is an autosomal recessive disorder
that produces osteopetrosis, renal tubular acidosis, and cerebral calcification. Other features …

[PDF][PDF] Carbonic Anhydrase II Deficiency Syndrome (Osteopetrosis with Renal Tubular Acidosis and Brain Calcification): Novel Mutations in CA2 Identified by Direct …

GN Shah, G Bonapace, PY Hu, P Strisciuglio, WS Sly - 2004 - academia.edu
The carbonic anhydrase II (CA II) deficiency syndrome is an autosomal recessive disorder
that produces osteopetrosis, renal tubular acidosis, and cerebral calcification. Other features …

[引用][C] Carbonic anhydrase II deficiency syndrome) osteopetrosis with renal tubular acidosis and brain calcification): Novel mutations in CA2 identified by direct …

G Shah, G Bonapace, H Py, P Strisciuglio, W Sly - HUMAN MUTATION, 2004 - iris.unina.it
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 …

Carbonic anhydrase II deficiency syndrome (osteopetrosis with renal tubular acidosis and brain calcification): novel mutations in CA2 identified by direct sequencing …

GN Shah, G Bonapace, PY Hu… - Human …, 2004 - pubmed.ncbi.nlm.nih.gov
The carbonic anhydrase II (CA II) deficiency syndrome is an autosomal recessive disorder
that produces osteopetrosis, renal tubular acidosis, and cerebral calcification. Other features …

Carbonic Anhydrase II Deficiency Syndrome (Osteopetrosis with Renal Tubular Acidosis and Brain Calcification): Novel Mutations in CA2 Identified by Direct …

GN Shah, G Bonapace, PY Hu, P Strisciuglio, WS Sly - 2004 - Wiley Online Library
The carbonic anhydrase II (CA II) deficiency syndrome is an autosomal recessive disorder
that produces osteopetrosis, renal tubular acidosis, and cerebral calcification. Other features …

Carbonic anhydrase II deficiency syndrome (osteopetrosis with renal tubular acidosis and brain calcification): Novel mutations in CA2 identified by direct sequencing …

GN Shah, G Bonapace, PY Hu, P Strisciuglio… - Human …, 2004 - search.proquest.com
The carbonic anhydrase II (CA II) deficiency syndrome is an autosomal recessive disorder
that produces osteopetrosis, renal tubular acidosis, and cerebral calcification. Other features …

[PDF][PDF] Carbonic Anhydrase II Deficiency Syndrome (Osteopetrosis with Renal Tubular Acidosis and Brain Calcification): Novel Mutations in CA2 Identified by Direct …

GN Shah, G Bonapace, PY Hu, P Strisciuglio, WS Sly - 2004 - academia.edu
The carbonic anhydrase II (CA II) deficiency syndrome is an autosomal recessive disorder
that produces osteopetrosis, renal tubular acidosis, and cerebral calcification. Other features …