✦ LIBER ✦

Mutational spectrum ofAPCand genotype-phenotype correlations in Greek FAP patients

✍ Scribed by Florentia Fostira; Georgia Thodi; Raphael Sandaltzopoulos; George Fountzilas; Drakoulis Yannoukakos

Book ID: 115010126
Publisher: BioMed Central
Year: 2010
Tongue: English
Weight: 504 KB
Volume: 10
Category: Article
ISSN: 1471-2407
DOI: 10.1186/1471-2407-10-389

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Mutational spectrum of theAPCandMUTYHgen

Mutational spectrum of theAPCandMUTYHgenes and genotype–phenotype correlations in Brazilian FAP, AFAP, and MAP patients

✍ Giovana Tardin Torrezan… 📂 Article 📅 2013 🏛 BioMed Central 🌐 English ⚖ 493 KB

Mutational spectrum and genotype–phenoty

Mutational spectrum and genotype–phenotype correlations in mevalonate kinase deficiency

✍ Saskia H.L. Mandey; Marit S. Schneiders; Janet Koster; Hans R. Waterham 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 202 KB

## Communicated by Johannes Zschocke Mevalonate kinase deficiency (MKD) is an autosomal recessive autoinflammatory disorder caused by mutations in the MVK gene resulting in deficient activity of mevalonate kinase (MK). Depending on the clinical severity, MKD may present as hyper-IgD and periodic fe

Mutation spectrum and phenotypic manifes

Mutation spectrum and phenotypic manifestation in FSHD Greek patients

✍ P. Sakellariou; K. Kekou; H. Fryssira; C. Sofocleous; P. Manta; A. Panousopoulou 📂 Article 📅 2012 🏛 Elsevier Science 🌐 English ⚖ 691 KB

Mutation spectrum of phenylketonuria in

Mutation spectrum of phenylketonuria in Syrian population: Genotype–phenotype correlation

✍ Murad, Hossam; Dabboul, Amir; Moassas, Faten; Alasmar, Diana; Al-achkar, Walid 📂 Article 📅 2013 🏛 Elsevier Science 🌐 English ⚖ 845 KB

Neurofibromatosis Type 1 || The Germline

Neurofibromatosis Type 1 || The Germline Mutational Spectrum in Neurofibromatosis Type 1 and Genotype–Phenotype Correlations

✍ Upadhyaya, Meena; Cooper, David N. 📂 Article 📅 2012 🏛 Springer Berlin Heidelberg ⚖ 173 KB

Mutation Spectrum and Genotype-Phenotype

Mutation Spectrum and Genotype-Phenotype Correlation in Cornelia de Lange Syndrome

✍ Mannini, Linda; Cucco, Francesco; Quarantotti, Valentina; Krantz, Ian D.; Musio, 📂 Article 📅 2013 🏛 John Wiley and Sons 🌐 English ⚖ 759 KB