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Carbonic anhydrase II deficiency: single-base deletion in exon 7 is the predominant mutation in Caribbean Hispanic patients.

To date, three different structural gene mutations have been identified in patients with carbonic anhydrase II deficiency (osteopetrosis with renal tubular acidosis and cerebral calcification). These include a missense mutation (H107Y) in two families, a splice junction mutation in intron 5 in one o...

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Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Hu, P. Y., Ernst, A. R., Sly, W. S., Venta, P. J., Skaggs, L. A., Tashian, R. E.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 1994
Gaiak:
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC1918096/
https://ncbi.nlm.nih.gov/pubmed/8128957
Etiketak: Etiketa erantsi
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