Mutation prediction by polyphen or functional assay, a detailed comparison of CYP27B1 missense mutations

Endocrine

Volumn 40, Issue 1, 2011, Pages 14-20

  Zou, Minjing ^a   Baitei, Essa Y ^a   Alzahrani, Ali S ^a   Parhar, Ranjit S ^a   Al Mohanna, Futwan A ^a   Meyer, Brian F ^a   Shi, Yufei ^a  

^a KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

Author keywords

1 hydroxylase; CYP27B1 mutation; P450c1 ; Rickets; Vitamin D

Indexed keywords

CALCIDIOL 1 MONOOXYGENASE;

ACCURACY; ANIMAL CELL; ARTICLE; CHO CELL; CODON; COMPUTER PROGRAM; CONTROLLED STUDY; CYP27B1 GENE; ENZYME ACTIVITY; ENZYME ANALYSIS; FEMALE; GENE; GENETIC CONSERVATION; INTERMETHOD COMPARISON; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NONHUMAN; NUCLEOTIDE SEQUENCE; PREDICTION; PRIORITY JOURNAL; SEQUENCE ALIGNMENT; SEQUENCE ANALYSIS; SPECIES COMPARISON; WILD TYPE;

EID: 80755153702     PISSN: 1355008X     EISSN: 15590100     Source Type: Journal    
DOI: 10.1007/s12020-011-9489-7     Document Type: Article

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