Exome sequencing identifies a novel homozygous mutation in the phosphate transporter SLC34A1 in hypophosphatemia and nephrocalcinosis

Journal of Clinical Endocrinology and Metabolism

Volumn 99, Issue 11, 2014, Pages E2451-E2456

  Rajagopal, Abbhirami ^a   Braslavsky, Débora ^b   Lu, James T ^a   Kleppe, Soledad ^b   Clément, Florencia ^b   Cassinelli, Hamilton ^b   Liu, David S ^a   Liern, Jose Miguel ^b   Vallejo, Graciela ^b   Bergadá, Ignacio ^b   Gibbs, Richard A ^a   Campeau, Phillipe M ^a   Lee, Brendan H ^a,c  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b HOSPITAL DE NIÑOS RICARDO GUTIÉRREZ   (Argentina)

^c HOWARD HUGHES MEDICAL INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; HISTIDINE; PARATHYROID HORMONE; SODIUM PHOSPHATE COTRANSPORTER 2A; SLC34A1 PROTEIN, HUMAN;

ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CHILD; CONTROLLED STUDY; EMBRYO; EXOME; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC CODE; GENETIC IDENTIFICATION; GENETIC SCREENING; GENETIC VARIABILITY; HOMOZYGOTE; HUMAN; HUMAN CELL; HYPERCALCEMIA; HYPERCALCIURIA; HYPOPHOSPHATEMIA; IN VITRO STUDY; KIDNEY CALCIFICATION; MALE; MUTATIONAL ANALYSIS; PATHOGENESIS; PHENOTYPE; PHOSPHATE TRANSPORT; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SLC34A1 GENE; BLOOD; GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE;

CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; EXOME; FEMALE; HUMANS; HYPERCALCEMIA; HYPERCALCIURIA; HYPOPHOSPHATEMIA; MALE; MUTATION; NEPHROCALCINOSIS; PARATHYROID HORMONE; PEDIGREE; PHENOTYPE; SODIUM-PHOSPHATE COTRANSPORTER PROTEINS, TYPE IIA;

EID: 84910010665     PISSN: 0021972X     EISSN: 19457197     Source Type: Journal    
DOI: 10.1210/jc.2014-1517     Document Type: Article

References (20)

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