Pseudohypoparathyroidism Type Ia and Pseudo-Pseudohypoparathyroidism: The Growing Spectrum ofGNASInactivating Mutations-Reference-Cited by-同舟云学术

Pseudohypoparathyroidism Type Ia and Pseudo-Pseudohypoparathyroidism: The Growing Spectrum ofGNASInactivating Mutations

Published:2013-03 Issue:3 Volume:34 Page:411-416
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Elli Francesca Marta¹,deSanctis Luisa²,Ceoloni Barbara²,Barbieri Anna Maria¹,Bordogna Paolo¹,Beck-Peccoz Paolo¹,Spada Anna¹,Mantovani Giovanna¹

Affiliation:

1. Department of Clinical Sciences and Community Health; University of Milan, Endocrinology and Diabetology Unit, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico; Milan; Italy

2. Department of Public Health and Pediatrics; University of Turin, Regina Margherita Children's Hospital; Turin; Italy

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.22265/fullpdf

Reference36 articles.

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2. Analysis of the GNAS1 gene in Albright's hereditary osteodystrophy;Ahrens;J Clin Endocrinol Metab,2001

3. Activating and inactivating mutations in the human GNAS gene;Aldred;Hum Mutat,2000

4. Albright hereditary osteodystrophy: identification of a novel mutation in a family;Bastida Eizaguirre;An Esp Pediatr,2001

5. On the sequence-directed nature of human gene mutation: the role of genomic architecture and the local DNA sequence environment in mediating gene mutations underlying human inherited disease;Cooper;Hum Mutat,2011

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