SLC34A3 intronic deletion in a new kindred with hereditary hypophosphatemic rickets with hypercalciuria

JCRPE Journal of Clinical Research in Pediatric Endocrinology

Volumn 4, Issue 2, 2012, Pages 89-93

  Hasani Ranjbar, Shirin ^a   Amoli, Mahsa M ^a   Ebrahim Habibi, Azadeh ^a   Dehghan, Ehsan ^a   Soltani, Akbar ^a   Amiri, Parvin ^a   Larijani, Bagher ^a  

^a TEHRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

Author keywords

Hereditary hypophosphatemic rickets with hypercalciuria; Hypercalciuria; Hypophosphatemia; Nephrocalcinosis; SLC34A3 gene

Indexed keywords

CALCIUM; GENOMIC DNA; PHOSPHORUS; SODIUM PHOSPHATE COTRANSPORTER 2C;

ADULT; ARTICLE; BLOOD SAMPLING; BONE PAIN; CALCIUM BLOOD LEVEL; CASE REPORT; CHILD; DNA ISOLATION; GENE AMPLIFICATION; GENE DELETION; GENE MUTATION; GENETIC SCREENING; GLOMERULUS FILTRATION RATE; HEREDITARY HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA; HOMOZYGOSITY; HUMAN; INTRON DELETION; KIDNEY CALCIFICATION; LABORATORY TEST; MALE; MEASUREMENT; MUTATIONAL ANALYSIS; NEPHROLITHIASIS; ONSET AGE; PHYSICAL EXAMINATION; POLYMERASE CHAIN REACTION; PROTEIN ANALYSIS; RADIOGRAPHY; SCHOOL CHILD; SEQUENCE ANALYSIS; SKELETON MALFORMATION; TUBULAR REABSORPTION OF PHOSPHATE;

ADULT; BASE SEQUENCE; CHILD; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; GENE DELETION; GENETIC PREDISPOSITION TO DISEASE; HUMANS; HYPERCALCIURIA; HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT; INTRONS; MALE; MOLECULAR SEQUENCE DATA; PEDIGREE; SODIUM-PHOSPHATE COTRANSPORTER PROTEINS, TYPE IIC;

EID: 84862846252     PISSN: 13085727     EISSN: 13085735     Source Type: Journal    
DOI: 10.4274/jcrpe.601     Document Type: Article

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