Novel mutations in the 1B-hydroxylase (P450c1) gene in three families with pseudovitamin D-deficiency rickets resulting in loss of functional enzyme activity in blood-derived macrophages.

S J Smith; AK Rucka; Jacqueline Berry; M Davies; S Mylchreest; CR Paterson; DA Heath; M Tassabehji; AP Read; Andrew Mee; EB Mawer

Novel mutations in the 1B-hydroxylase (P450c1) gene in three families with pseudovitamin D-deficiency rickets resulting in loss of functional enzyme activity in blood-derived macrophages.

S J Smith, AK Rucka, Jacqueline Berry, M Davies, S Mylchreest, CR Paterson, DA Heath, M Tassabehji, AP Read, Andrew Mee, EB Mawer

IMP Health Management

Research output: Contribution to journal › Article › peer-review

Original language	English
Pages (from-to)	730-739
Journal	Journal of Bone and Mineral Research
Volume	14
Publication status	Published - 1999

Cite this

Smith, S. J., Rucka, AK., Berry, J., Davies, M., Mylchreest, S., Paterson, CR., Heath, DA., Tassabehji, M., Read, AP., Mee, A., & Mawer, EB. (1999). Novel mutations in the 1B-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, 14, 730-739.

@article{c010a01d45424081997f39a48002979a,

title = "Novel mutations in the 1B-hydroxylase (P450c1) gene in three families with pseudovitamin D-deficiency rickets resulting in loss of functional enzyme activity in blood-derived macrophages.",

author = "Smith, {S J} and AK Rucka and Jacqueline Berry and M Davies and S Mylchreest and CR Paterson and DA Heath and M Tassabehji and AP Read and Andrew Mee and EB Mawer",

year = "1999",

language = "English",

volume = "14",

pages = "730--739",

journal = "Journal of Bone and Mineral Research",

issn = "1523-4681",

publisher = "Oxford University Press",

}

Smith, SJ, Rucka, AK, Berry, J, Davies, M, Mylchreest, S, Paterson, CR, Heath, DA, Tassabehji, M, Read, AP, Mee, A & Mawer, EB 1999, 'Novel mutations in the 1B-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, pp. 730-739.

Novel mutations in the 1B-hydroxylase (P450c1) gene in three families with pseudovitamin D-deficiency rickets resulting in loss of functional enzyme activity in blood-derived macrophages. / Smith, S J; Rucka, AK; Berry, Jacqueline et al.
In: Journal of Bone and Mineral Research, Vol. 14, 1999, p. 730-739.

Research output: Contribution to journal › Article › peer-review

TY - JOUR

T1 - Novel mutations in the 1B-hydroxylase (P450c1) gene in three families with pseudovitamin D-deficiency rickets resulting in loss of functional enzyme activity in blood-derived macrophages.

AU - Smith, S J

AU - Rucka, AK

AU - Berry, Jacqueline

AU - Davies, M

AU - Mylchreest, S

AU - Paterson, CR

AU - Heath, DA

AU - Tassabehji, M

AU - Read, AP

AU - Mee, Andrew

AU - Mawer, EB

PY - 1999

Y1 - 1999

M3 - Article

SN - 1523-4681

VL - 14

SP - 730

EP - 739

JO - Journal of Bone and Mineral Research

JF - Journal of Bone and Mineral Research

ER -