✦ LIBER ✦

“Molecular genetic analysis of theWT1 gene in patients suspected to have the Denys-Drash syndrome”

✍ Scribed by Coppes, Max. J. ;Clerizuzio, Carol L.

Publisher: John Wiley and Sons
Year: 1994
Tongue: English
Weight: 86 KB
Volume: 23
Category: Article
ISSN: 0098-1532
DOI: 10.1002/mpo.2950230414

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Molecular genetic analysis of the FMR-1

Molecular genetic analysis of the FMR-1 gene in a large collection of autistic patients

✍ S. M. Klauck; Ewald Münstermann; Bettina Bieber-Martig; Dorothea Rühl; Sonja Lis 📂 Article 📅 1997 🏛 Springer 🌐 English ⚖ 76 KB

Molecular analysis of the anti-Müllerian

Molecular analysis of the anti-Müllerian hormone, the anti-Müllerian hormone receptor, and galactose-1-phosphate uridyl transferase genes in patients with the Mayer-Rokitansky-Küster-Hauser syndrome

✍ Juan Carlos Zenteno; Sebastian Carranza-Lira; Susana Kofman-Alfaro 📂 Article 📅 2002 🏛 Springer 🌐 English ⚖ 131 KB

Molecular analysis of the MVK and TNFRSF

Molecular analysis of the MVK and TNFRSF1A genes in patients with a clinical presentation typical of the hyperimmunoglobulinemia D with periodic fever syndrome: A low-penetrance TNFRSF1A variant in a heterozygous MVK carrier possibly influences the phenotype of hyperimmunoglobulinemia D with periodic fever syndrome or vice versa

✍ Silvia Stojanov; Peter Lohse; Pia Lohse; Florian Hoffmann; Ellen D. Renner; Step 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 304 KB 👁 3 views

## Abstract ## Objective To describe biochemical findings and the spectrum of mevalonate kinase (__MVK__) gene mutations as well as an associated __TNFRSF1A__ low‐penetrance variant in a series of patients with clinical features of the hyperimmunoglobulinemia D with periodic fever syndrome (HIDS).