A splice junction mutation in intron 2 of the carbonic anhydrase II gene of osteopetrosis patients from Arabic countries

PY Hu, DE Roth, LA Skaggs, PJ Venta… - Human …, 1992 - Wiley Online Library
Clinical manifestations in patients with carbonic anhydrase (CA) II deficiency include
osteopetrosis, renal tubular acidosis, and cerebral calcification. Of the 39 reported cases of …
被引用次数：82 相关文章

A splice junction mutation in intron 2 of the carbonic anhydrase II gene of osteopetrosis patients from Arabic countries.

PY Hu, DE Roth, LA Skaggs, PJ Venta… - Human …, 1992 - europepmc.org
Clinical manifestations in patients with carbonic anhydrase (CA) II deficiency include
osteopetrosis, renal tubular acidosis, and cerebral calcification. Of the 39 reported cases of …

A splice junction mutation in intron 2 of the carbonic anhydrase II gene of osteopetrosis patients from Arabic countries

PY Hu, DE Roth, LA Skaggs, PJ Venta… - Human …, 1992 - pubmed.ncbi.nlm.nih.gov
Clinical manifestations in patients with carbonic anhydrase (CA) II deficiency include
osteopetrosis, renal tubular acidosis, and cerebral calcification. Of the 39 reported cases of …