Identification of a novel loss-of-function PHEX mutation, Ala720Ser, in a sporadic case of adult-onset hypophosphatemic osteomalacia-Reference-Cited by-同舟云学术

Identification of a novel loss-of-function PHEX mutation, Ala720Ser, in a sporadic case of adult-onset hypophosphatemic osteomalacia

Published:2018-01 Issue: Volume:106 Page:30-34
ISSN:8756-3282
Container-title:Bone
language:en
Short-container-title:Bone

Author:

Goljanek-Whysall Katarzyna,Tridimas Andreas,McCormick Rachel,Russell Nicki-Jayne,Sloman Melissa,Sorani Alan,Fraser William D.,Hannan Fadil M.

Publisher

Elsevier BV

Subject

Histology,Physiology,Endocrinology, Diabetes and Metabolism

Reference34 articles.

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4. (PEX) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets. The HYP Consortium;gene;Nat. Genet.,1995

5. Mutational analysis of PHEX gene in X-linked hypophosphatemia;Dixon;J. Clin. Endocrinol. Metab.,1998

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