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
.