SCOPUS 정보 검색 플랫폼

Volumn 54, Issue 5, 1998, Pages 1437-1443

Two novel 1α-hydroxylase mutations in French-Canadians with vitamin D dependency rickets type I

(9) Yoshida, Tadashi b Monkawa, Toshiaki b Tenenhouse, Harriet S b Goodyer, Paul b Shinki, Toshimasa b Suda, Tatsuo b Wakino, Shu b Hayashi, Matsuhiko a Saruta, Takao b

a KEIO UNIVERSITY (Japan)

b NONE

Author keywords

25 hydroxycholecalciferol 1 hydroxylase; Cytochrome P450; Gene mutation; Hypocalcemia; Mendelian disorder; Proximal tubules; Rachitic lesions; Vitamin D

Indexed keywords

BINDING PROTEIN; CALCIDIOL 1 MONOOXYGENASE; COMPLEMENTARY DNA; FERREDOXIN; HEME; VITAMIN D;

ARTICLE; BASE PAIRING; CANADA; CLINICAL ARTICLE; CONTROLLED STUDY; EXON; FEMALE; FOUNDER EFFECT; GENE AMPLIFICATION; GENE MUTATION; HUMAN; MALE; MOLECULAR CLONING; POLYACRYLAMIDE GEL ELECTROPHORESIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; RICKETS; STOP CODON; VITAMIN D DEFICIENCY; CHROMOSOME MAP; GENETICS; MUTATION;

25-HYDROXYVITAMIN D3 1-ALPHA-HYDROXYLASE; CHROMOSOME MAPPING; HUMANS; MUTATION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; RICKETS;

EID: 0031593494 PISSN: 00852538 EISSN: None Source Type: Journal
DOI: 10.1046/j.1523-1755.1998.00133.x Document Type: Article

Times cited : (86)

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