Autosomal recessive hypophosphataemic rickets with hypercalciuria is not caused by mutations in the type II renal sodium/phosphate cotransporter gene | Zendy

Lambert van den Heuvel | Zendy; Katja Op de Koul | Zendy; E. Knots | Zendy; Nine V.A.M. Knoers | Zendy; L.A.H. Monnens | Zendy

Open Access

Autosomal recessive hypophosphataemic rickets with hypercalciuria is not caused by mutations in the type II renal sodium/phosphate cotransporter gene

Author(s) -

Lambert van den Heuvel,

Katja Op de Koul,

E. Knots,

Nine V.A.M. Knoers,

L.A.H. Monnens

Publication year - 2001

Publication title -

nephrology dialysis transplantation

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.654

H-Index - 168

eISSN - 1460-2385

pISSN - 0931-0509

DOI - 10.1093/ndt/16.1.48

Subject(s) - hypercalciuria , hypophosphatemic rickets , gene , gene mutation , genetics , rickets , open reading frame , endocrinology , medicine , mutation , biology , urinary system , vitamin d and neurology , peptide sequence

At present the genetic defect for autosomal recessive and autosomal dominant hypophosphataemic rickets with hypercalciuria (HHRH) is unknown. Type II sodium/phosphate cotransporter (NPT2) gene is a serious candidate for being the causative gene in either or both autosomal recessive and autosomal dominant HHRH. In the present study we tested this hypothesis in one autosomal recessive family.

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