✦ LIBER ✦

Identification of GLA gene deletions in Fabry patients by Multiplex Ligation-dependent Probe Amplification (MLPA)

✍ Scribed by Annalisa Schirinzi; Marta Centra; Clelia Prattichizzo; Maddalena Gigante; Marco De Fabritiis; Vincenzo Giancaspro; Francesco Petrarulo; Rossana Santacroce; Maurizio Margaglione; Loreto Gesualdo; Elena Ranieri

Book ID: 116988366
Publisher: Elsevier Science
Year: 2008
Tongue: English
Weight: 356 KB
Volume: 94
Category: Article
ISSN: 1096-7192
DOI: 10.1016/j.ymgme.2008.03.017

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

[32] IDENTIFICATION OF DELETIONS IN LDLR

[32] IDENTIFICATION OF DELETIONS IN LDLR GENE BY MULTIPLEX LIGATION-DEPENDENT PROBE AMPLIFICATION ANALYSIS

✍ M.N. D'Agostino; M. Romano; M.D. Di Taranto; G. Marotta; M. Gentile; P. Rubba; G 📂 Article 📅 2009 🏛 Elsevier Science 🌐 English ⚖ 53 KB

Multiplex Ligation-Dependent Probe Ampli

Multiplex Ligation-Dependent Probe Amplification (MLPA) Detects Large Deletions in the MECP2 Gene of Swedish Rett Syndrome Patients

✍ Erlandson, Anna; Samuelsson, Lena; Hagberg, Bengt; Kyllerman, Mårten; Vujic, Mih 📂 Article 📅 2003 🏛 Mary Ann Liebert 🌐 English ⚖ 175 KB

Subtelomeric deletions detected in patie

Subtelomeric deletions detected in patients with idiopathic mental retardation using multiplex ligation-dependent probe amplification (MLPA)

✍ Liesbeth Rooms; Edwin Reyniers; Rob van Luijk; Stefaan Scheers; Jan Wauters; Ber 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 193 KB

## Communicated by Ulf Landegren Subtelomeric rearrangements are responsible for 5% to 10% of cases of unexplained mental retardation. Despite their clinical relevance, methods to screen for these cytogenetically invisible abnormalities on a routine base are scarce. We screened patients with idiopa

G.P.7.01 Analysis of the nebulin gene by

G.P.7.01 Analysis of the nebulin gene by multiplex-ligation dependent probe amplification (MLPA) and methylation-specific MLPA

✍ M. Lunkka-Hytönen; V.L. Lehtokari; C. Wallgren-Pettersson; K. Pelin 📂 Article 📅 2009 🏛 Elsevier Science 🌐 English ⚖ 42 KB

Improved Detection of Deletions and Dupl

Improved Detection of Deletions and Duplications in theDMDGene Using the Multiplex Ligation-Dependent Probe Amplification (MLPA) Method

✍ Ivona Sansović,Ingeborg Barišić,Katja Dumić 📂 Article 📅 2012 🏛 Springer 🌐 English ⚖ 505 KB

Detection of Deletions/Duplications in α

Detection of Deletions/Duplications in α-Globin Gene Cluster by Multiplex Ligation-Dependent Probe Amplification

✍ Nezhat, Naghmeh; Akbari, Mohammad Taghi 📂 Article 📅 2012 🏛 Mary Ann Liebert 🌐 English ⚖ 466 KB