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Research

Publications: Dr Susan Smith

Smith SJ, Rucka AK, Berry JL, Davies M, Mylchreest S, Paterson CR, Heath DA, Tassabehji M et al. ( 2009 ) . Novel Mutations in the 1α‐Hydroxylase (P450c1) Gene in Three Families with Pseudovitamin D–Deficiency Rickets Resulting in Loss of Functional Enzyme Activity in Blood‐Derived Macrophages . Journal of Bone and Mineral Research vol. 14 , ( 5 ) 730 - 739 .