✦ LIBER ✦

A novel mutation of theACADMgene (c.145C>G) associated with the common c.985A>G mutation on the otherACADMallele causes mild MCAD deficiency: a case report

✍ Scribed by Anne-Frédérique Dessein; Monique Fontaine; Brage S Andresen; Niels Gregersen; Michèle Brivet; Daniel Rabier; Silvia Napuri-Gouel; Dries Dobbelaere; Karine Mention-Mulliez; Annie Martin-Ponthieu; Gilbert Briand; David S Millington; Christine Vianey-Saban; Ronald JA Wanders; Joseph Vamecq

Book ID: 119911388
Publisher: BioMed Central
Year: 2010
Tongue: English
Weight: 564 KB
Volume: 5
Category: Article
ISSN: 1750-1172
DOI: 10.1186/1750-1172-5-26

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Novel mutations causing medium chain acy

Novel mutations causing medium chain acyl-CoA dehydrogenase deficiency: Under-representation of the common c.985 A > G mutation in the New York state population

✍ Matthew J. Nichols; Carlos A. Saavedra-Matiz; Kenneth A. Pass; Michele Caggana 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 310 KB 👁 1 views

Newborns with C8-acylcarnitine level ove

Newborns with C8-acylcarnitine level over the 90th centile have an increased frequency of the common MCAD 985A>G mutation

✍ B. Blois; C. Riddell; K. Dooley; S. Dyack 📂 Article 📅 2005 🏛 Springer 🌐 English ⚖ 72 KB

The RYR1 g.1843C>T mutation is associate

The RYR1 g.1843C>T mutation is associated with the effect of the IGF2 intron3-g.3072G>A mutation on muscle hypertrophy

✍ A. Stinckens; K. Van den Maagdenberg; T. Luyten; M. Georges; S. De Smet; N. Buys 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 504 KB

The identification of a novel splicing m

The identification of a novel splicing mutation inC1qBin a Japanese family with C1q deficiency: a case report

✍ Higuchi, Yousuke; Shimizu, Junya; Hatanaka, Michiyo; Kitano, Etsuko; Kitamura, H 📂 Article 📅 2013 🏛 BioMed Central 🌐 English ⚖ 404 KB

Ryanodine Receptor Mutations Presenting

Ryanodine Receptor Mutations Presenting as Idiopathic Ventricular Fibrillation: A Report on Two Novel Familial Compound Mutations, c.6224T>C and c.13781A>G, With the Clinical Presentation of Idiopathic Ventricular Fibrillation

✍ Paech, Christian; Gebauer, Roman Antonin; Karstedt, Jens; Marschall, Christoph; 📂 Article 📅 2014 🏛 Springer 🌐 English ⚖ 199 KB

CLN2/TPP1 deficiency: The novel mutation

CLN2/TPP1 deficiency: The novel mutation IVS7-10A>G causes intron retention and is associated with a mild disease phenotype

✍ C. Bessa; C.A. Teixeira; A. Dias; M. Alves; S. Rocha; L. Lacerda; L. Loureiro; A 📂 Article 📅 2008 🏛 Elsevier Science 🌐 English ⚖ 647 KB