✦ LIBER ✦

Molecular Analysis of the GNAS1 Gene for the Correct Diagnosis of Albright Hereditary Osteodystrophy and Pseudohypoparathyroidism

✍ Scribed by De Sanctis, Luisa; Romagnolo, Damiano; Olivero, Martina; Buzi, Fabio; Maghnie, Mohamad; Scirè, Giuseppe; Crinò, Antonino; Baroncelli, Giampiero Igli; Salerno, Mariacarolina; Di Maio, Salvatore; Cappa, Marco; Grosso, Salvatore; Rigon, Franco; Lala, Roberto; De Sanctis, Carlo; Dianzani, Irma

Book ID: 121496888
Publisher: Nature Publishing Group
Year: 2003
Tongue: English
Weight: 128 KB
Volume: 53
Category: Article
ISSN: 0031-3998
DOI: 10.1203/01.PDR.0000059752.07086.A2

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Pseudohypoparathyroidism and GNAS Epigen

Pseudohypoparathyroidism and GNAS Epigenetic Defects: Clinical Evaluation of Albright Hereditary Osteodystrophy and Molecular Analysis in 40 Patients

✍ Mantovani, Giovanna; de Sanctis, Luisa; Barbieri, Anna Maria; Elli, Francesca M. 📂 Article 📅 2010 🏛 Endocrine Society 🌐 English ⚖ 203 KB

Identification of Two Novel Deletion Mut

Identification of Two Novel Deletion Mutations within the G s α Gene ( GNAS1 ) in Albright Hereditary Osteodystrophy 1

✍ Yu, Dawen; Yu, Shuhua; Schuster, Volker; Kruse, Klaus; Clericuzio, Carol L.; Wei 📂 Article 📅 1999 🏛 Endocrine Society 🌐 English ⚖ 674 KB

Characterization of a de Novo 43-bp Dele

Characterization of a de Novo 43-bp Deletion of the Gsα Gene (GNAS1) in Albright Hereditary Osteodystrophy

✍ Monique E.M.Oude Luttikhuis; Louise C. Wilson; James V. Leonard; Richard C. Trem 📂 Article 📅 1994 🏛 Elsevier Science 🌐 English ⚖ 207 KB

A Disruptive Mutation in Exon 3 of the G

A Disruptive Mutation in Exon 3 of the GNAS Gene with Albright Hereditary Osteodystrophy, Normocalcemic Pseudohypoparathyroidism, and Selective Long Transcript Variant Gsα-L Deficiency

✍ Thiele, Susanne; Werner, Ralf; Ahrens, Wiebke; Hoppe, Ute; Marschke, Christine; 📂 Article 📅 2007 🏛 Endocrine Society 🌐 English ⚖ 171 KB

Genetic Deficiency of the α Subunit of t

Genetic Deficiency of the α Subunit of the Guanine Nucleotide-Binding Protein Gsas the Molecular Basis for Albright Hereditary Osteodystrophy

✍ Michael A. Levine, Thomas G. Ahn, Sharon F. Klupt, Keith D. Kaufman, Philip M. S 📂 Article 📅 1988 🏛 National Academy of Sciences 🌐 English ⚖ 980 KB

Cloning of the hereditary hemochromatosi

Cloning of the hereditary hemochromatosis gene: Implications for pathogenesis, diagnosis, and screening

✍ Andreas Himmelmann; Jörg Fehr 📂 Article 📅 1999 🏛 Elsevier Science 🌐 English ⚖ 872 KB