A PHEX gene mutation is responsible for adult-onset vitamin D-resistant hypophosphatemic osteomalacia: Evidence that the disorder is not a distinct entity from X-linked hypophosphatemic rickets

Journal of Clinical Endocrinology and Metabolism

Volumn 83, Issue 10, 1998, Pages 3459-3462

  Econs, Michael J ^a,h   Friedman, Nancy E ^b   Rowe, Peter S N ^c   Speer, Marcy C ^b   Francis, Fiona ^d   Strom, Tim M ^e   Oudet, Claudine ^f   Smith, John A ^a   Ninomiya, James T ^g   Lee, Benjamin E ^b   Bergen, Heather ^b  

^a INDIANA UNIVERSITY   (United States)

^b DUKE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

^d MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^e UNIVERSITY OF MUNICH   (Germany)

^f INSTITUT DE GÉNÉTIQUE ET DE BIOLOGIE MOLÉCULAIRE ET CELLULAIRE   (France)

^g MEDICAL COLLEGE OF WISCONSIN   (United States)

^h INDIANA UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ARTICLE; CHILD; CHROMOSOME XP; CONTROLLED STUDY; FEMALE; HUMAN; KNEE RADIOGRAPHY; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; OSTEOMALACIA; PEDIGREE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SINGLE STRAND CONFORMATION POLYMORPHISM; VITAMIN D RESISTANT RICKETS;

ADOLESCENT; AGE OF ONSET; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; DRUG RESISTANCE; FEMALE; HUMANS; HYPOPHOSPHATEMIA; INFANT; LEG; MALE; MUTATION; OSTEOMALACIA; PEDIGREE; PHEX PHOSPHATE REGULATING NEUTRAL ENDOPEPTIDASE; PROTEINS; RICKETS; VITAMIN D; X CHROMOSOME;

EID: 15644373713     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.83.10.3459     Document Type: Article

References (17)

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