Hereditary vitamin D resistant rickets: Identification of a novel splice site mutation in the vitamin D receptor gene and successful treatment with oral calcium therapy

Bone

Volumn 45, Issue 4, 2009, Pages 743-746

  Ma, Nina S ^a   Malloy, Peter J ^b   Pitukcheewanont, Pisit ^a   Dreimane, Daina ^a   Geffner, Mitchell E ^a   Feldman, David ^b  

^a CHILDREN S HOSPITAL LOS ANGELES   (United States)

^b STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

1,25 dihydroxyvitamin D; Alopecia; Bone; Hereditary vitamin D resistant rickets; Vitamin D receptor

Indexed keywords

ALKALINE PHOSPHATASE; CALCITRIOL; CALCIUM; COMPLEMENTARY DNA; ERGOCALCIFEROL; GUANINE; PARATHYROID HORMONE; PHOSPHORUS; THYMINE; VITAMIN D RECEPTOR;

ALKALINE PHOSPHATASE BLOOD LEVEL; ALOPECIA; ARTICLE; CASE REPORT; DNA SEQUENCE; DRUG MEGADOSE; DRUG RESPONSE; DRUG TREATMENT FAILURE; EXON; FAMILIAL HYPOPHOSPHATEMIC RICKETS; FAMILY STUDY; FEMALE; FRACTURE; GENE DELETION; GENE IDENTIFICATION; HETEROZYGOSITY; HOMOZYGOSITY; HOSPITALIZATION; HUMAN; HYPOCALCEMIA; HYPOPHOSPHATEMIA; INFANT; INTRON; LENGTH OF STAY; LIGAND BINDING; MOTOR DYSFUNCTION; MUSCLE HYPOTONIA; MUSCLE STRENGTH; MUTATIONAL ANALYSIS; NUCLEIC ACID BASE SUBSTITUTION; OSTEOPENIA; PARATHYROID HORMONE BLOOD LEVEL; RANGE OF MOTION; REHABILITATION CARE; RESPIRATORY DISTRESS; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RICKETS; RNA ISOLATION; RNA SPLICING; SEQUENCE ANALYSIS; VITAMIN BLOOD LEVEL;

ADMINISTRATION, ORAL; AMINO ACID SEQUENCE; BASE SEQUENCE; CALCIUM; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; DNA, COMPLEMENTARY; EXONS; FEMALE; HOSPITALIZATION; HUMANS; HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT; INFANT; INFANT, NEWBORN; MOLECULAR SEQUENCE DATA; MUTATION; PREGNANCY; RECEPTORS, CALCITRIOL; RNA SPLICE SITES;

EID: 68949196309     PISSN: 87563282     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bone.2009.06.003     Document Type: Article

References (16)

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