Molecular analysis of DMP1 mutants causing autosomal recessive hypophosphatemic rickets

Bone

Volumn 44, Issue 2, 2009, Pages 287-294

  Farrow, Emily G ^a   Davis, Siobhan I ^a   Ward, Leanne M ^b   Summers, Lelia J ^a   Bubbear, Judith S ^c   Keen, Richard ^c   Stamp, Trevor C B ^c,d   Baker, Laurence R I ^e   Bonewald, Lynda F ^f   White, Kenneth E ^a  

^a INDIANA UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

^c ROYAL NATIONAL ORTHOPAEDIC HOSPITAL   (United Kingdom)

^d UNIVERSITY COLLEGE LONDON   (United Kingdom)

^e ST BARTHOLOMEW S HOSPITAL   (United Kingdom)

^f UNIVERSITY OF MISSOURI KANSAS CITY   (United States)

Author keywords

ARHR; FGF23; Hypophosphatemia; SIBLING; Vitamin D

Indexed keywords

DENTIN MATRIX PROTEIN 1; FIBROBLAST GROWTH FACTOR 23; INTEGRIN BINDING SIALOPROTEIN; SIALOPROTEIN; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CELL MIGRATION; CELLULAR DISTRIBUTION; CONFOCAL MICROSCOPY; CONTROLLED STUDY; GENE DELETION; GENE EXPRESSION; GENE FUNCTION; GENE MUTATION; GENETIC ANALYSIS; HUMAN; HUMAN CELL; HYPOPHOSPHATEMIC RICKETS; IMMUNOFLUORESCENCE TEST; IN VITRO STUDY; PHENOTYPE; TRANS GOLGI NETWORK; WESTERN BLOTTING; WILD TYPE;

CELL LINE; CONSERVED SEQUENCE; EXTRACELLULAR MATRIX PROTEINS; GENES, RECESSIVE; HUMANS; HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT; MUTANT PROTEINS; MUTATION; PHOSPHOPROTEINS; PROTEIN TRANSPORT; SUBCELLULAR FRACTIONS; VITAMIN D;

EID: 58249112746     PISSN: 87563282     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bone.2008.10.040     Document Type: Article

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