Two novel CAII mutations causing carbonic anhydrase II deficiency syndrome in two unrelated Chinese families

标题
Two novel CAII mutations causing carbonic anhydrase II deficiency syndrome in two unrelated Chinese families
作者
关键词
Carbonic anhydrase II deficiency syndrome, Mutation, Osteopetrosis, Cerebral calcifications, Renal tubular acidosis (RTA)
出版物
METABOLIC BRAIN DISEASE
Volume 30, Issue 4, Pages 989-997
出版商
Springer Nature
发表日期
2015-02-26
DOI
10.1007/s11011-015-9660-6

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