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...

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Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Κύριοι συγγραφείς: Borthwick, K, Kandemir, N, Topaloglu, R, Kornak, U, Bakkaloglu, A, Yordam, N, Ozen, S, Mocan, H, Shah, G, Sly, W, Karet, F
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: BMJ Group 2003
Θέματα:
Short Report
Διαθέσιμο Online: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
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