(Q54096773)
Statements
Novel mutations in the 1alpha-hydroxylase (P450c1) gene in three families with pseudovitamin D-deficiency rickets resulting in loss of functional enzyme activity in blood-derived macrophages. (English)
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S J Smith
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A K Rucka
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J L Berry
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M Davies
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S Mylchreest
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C R Paterson
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D A Heath
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M Tassabehji
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A P Read
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A P Mee
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E B Mawer
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1 May 1999
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14
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5
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730-739
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Identifiers
1 reference