✦ LIBER ✦

Mutation Analysis of the RSK2 Gene in Coffin-Lowry Patients: Extensive Allelic Heterogeneity and a High Rate of De Novo Mutations

✍ Scribed by Sylvie Jacquot; Karine Merienne; Dario De Cesare; Solange Pannetier; Jean-Louis Mandel; Paolo Sassone-Corsi; André Hanauer

Book ID: 117852639
Publisher: American Society of Human Genetics
Year: 1998
Tongue: English
Weight: 463 KB
Volume: 63
Category: Article
ISSN: 0002-9297
DOI: 10.1086/302153

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Unusual Splice-Site Mutations in the RSK

Unusual Splice-Site Mutations in the RSK2 Gene and Suggestion of Genetic Heterogeneity in Coffin-Lowry Syndrome

✍ Maria Zeniou; Solange Pannetier; Jean-Pierre Fryns; André Hanauer 📂 Article 📅 2002 🏛 American Society of Human Genetics 🌐 English ⚖ 917 KB

Identification of novel mutations in the

Identification of novel mutations in the RSK2 gene (RPS6KA3) in patients with Coffin–Lowry syndrome

✍ JP Delaunoy; A Dubos; P Marques Pereira; A Hanauer 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 129 KB

Mutational spectrum of the EPM2A gene in

Mutational spectrum of the EPM2A gene in progressive myoclonus epilepsy of Lafora: high degree of allelic heterogeneity and prevalence of deletions

✍ Gómez-Garre, Pilar; Sanz, Yolanda; de Córdoba, Santiago Rodríguez; Serratosa, Jo 📂 Article 📅 2000 🏛 Nature Publishing Group 🌐 English ⚖ 161 KB

CYP21 Gene Mutation Analysis in 198 Pati

CYP21 Gene Mutation Analysis in 198 Patients with 21-Hydroxylase Deficiency in The Netherlands: Six Novel Mutations and a Specific Cluster of Four Mutations

✍ Stikkelbroeck, Nike M. M. L.; Hoefsloot, Lies H.; de Wijs, Ilse J.; Otten, Barto 📂 Article 📅 2003 🏛 Endocrine Society 🌐 English ⚖ 113 KB

Analysis of 22 cystic fibrosis mutations

Analysis of 22 cystic fibrosis mutations in 62 patients from the Flanders, Belgium, reveals a high prevalence of Nordic mutation 394delTT

✍ Ludwine Messiaen; Conny Van Loon; Rudi Rossau; Ilse De Canck; Frans De Baets; Ed 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 126 KB 👁 2 views

Analysis of the COL1A1 and COL1A2 Genes

Analysis of the COL1A1 and COL1A2 Genes by PCR Amplification and Scanning by Conformation-Sensitive Gel Electrophoresis Identifies Only COL1A1 Mutations in 15 Patients with Osteogenesis Imperfecta Type I: Identification of Common Sequences of Null-Allele Mutations

✍ Jarmo Körkkö; Leena Ala-Kokko; Anne De Paepe; Lieve Nuytinck; James Earley; Darw 📂 Article 📅 1998 🏛 American Society of Human Genetics 🌐 English ⚖ 443 KB