A positive genotype–phenotype correlation in a large cohort of patients with Pseudohypoparathyroidism Type Ia and Pseudo‐pseudohypoparathyroidism and 33 newly identified mutations in the GNAS gene-Reference-Cited by-同舟云学术

A positive genotype–phenotype correlation in a large cohort of patients with Pseudohypoparathyroidism Type Ia and Pseudo‐pseudohypoparathyroidism and 33 newly identified mutations in the GNAS gene

Published:2014-12-04 Issue:2 Volume:3 Page:111-120
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Thiele Susanne¹,Werner Ralf¹,Grötzinger Joachim²,Brix Bettina¹,Staedt Pia¹,Struve Dagmar¹,Reiz Benedikt³,Farida Jennane⁴,Hiort Olaf¹

Affiliation:

1. Division of Experimental Paediatric Endocrinology and Diabetes Department of Paediatrics University of Lübeck Lübeck Germany

2. Institute of Biochemistry Christian‐Albrechts‐University of Kiel Kiel Germany

3. Institute for Integrative and Experimental Genomics University of Lübeck Lübeck Germany

4. Service de Pédiatrie 2 unité Hôpital universitaire Abderrahim Harouchi Chu ibn Rochd Casablanca Morocco

Funder

Novo Nordisk Pharma

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.117

Reference46 articles.

1. Diagnostic and mutational spectrum of progressive osseous heteroplasia (POH) and other forms ofGNAS‐based heterotopic ossification

2. Determination of Gsα a Protein Activity in Albright's Hereditary Osteodystrophy

3. Analysis of the GNAS1 Gene in Albright's Hereditary Osteodystrophy

4. Genetics of Pseudohypoparathyroidism Types Ia and Ic

5. Activating and inactivating mutations in the human GNAS1 gene

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