تحميل...
A phenocopy of CAII deficiency: a novel genetic explanation for inherited infantile osteopetrosis with distal renal tubular acidosis
We report the molecular genetic investigation of two consanguineous kindreds where osteopetrosis and distal RTA (dRTA) were both manifest. One kindred harbours a novel homozygous frameshift alteration in CA2. In the other, CAII levels were normal despite a similar clinical picture, and we excluded d...
محفوظ في:
| المؤلفون الرئيسيون: | , , , , , , , , , , |
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| التنسيق: | Artigo |
| اللغة: | Inglês |
| منشور في: |
BMJ Group
2003
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| الموضوعات: | |
| الوصول للمادة أونلاين: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1735376/ https://ncbi.nlm.nih.gov/pubmed/12566520 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.40.2.115 |
| الوسوم: |
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