Carbonic anhydrase II deficiency identified as the primary defect in the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification.

The clinical, radiological, and pathological findings in three siblings affected with the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification have been reported. In an effort to explain the pleiotropic effects of the mutation producing this disorder,...

Повний опис

Бібліографічні деталі

Опубліковано в::	Proc Natl Acad Sci U S A
Автори:	Sly, W S, Hewett-Emmett, D, Whyte, M P, Yu, Y S, Tashian, R E
Формат:	Artigo
Мова:	Inglês
Опубліковано:	National Academy of Sciences 1983
Предмети:	Research Article
Онлайн доступ:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC393906/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/6405388/ https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.80.9.2752
Теги:	Додати тег Немає тегів, Будьте першим, хто поставить тег для цього запису!