✦ LIBER ✦

A detailed analysis of theMECP2gene: prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients

✍ Scribed by Violaine Bourdon; Christophe Philippe; Orianne Labrune; Daniel Amsallem; Cécile Arnould; Philippe Jonveaux

Publisher: Springer
Year: 2001
Tongue: English
Weight: 128 KB
Volume: 108
Category: Article
ISSN: 0340-6717
DOI: 10.1007/s004390000422

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Mutational analysis of theMECP2gene in J

Mutational analysis of theMECP2gene in Japanese patients with Rett syndrome

✍ K. Amano; Y. Nomura; M. Segawa; K. Yamakawa 📂 Article 📅 2000 🏛 Nature Publishing Group 🌐 English ⚖ 167 KB

Mutation analysis of theMECP2gene in pat

Mutation analysis of theMECP2gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms

✍ Daniela Zahorakova; Robert Rosipal; Jan Hadac; Alena Zumrova; Vladimir Bzduch; N 📂 Article 📅 2007 🏛 Nature Publishing Group 🌐 English ⚖ 279 KB

Mutation analysis of theMECP2gene in pat

Mutation analysis of theMECP2gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms

✍ Daniela Zahorakova; Robert Rosipal; Jan Hadac; Alena Zumrova; Vladimir Bzduch; N 📂 Article 📅 2007 🏛 Nature Publishing Group 🌐 English ⚖ 279 KB

Mutation analysis of the HDAC 1, 2, 8 an

Mutation analysis of the HDAC 1, 2, 8 and CDKL5 genes in Rett syndrome patients without mutations in MECP2

✍ Peter Huppke; Andreas Ohlenbusch; Cornelia Brendel; Franco Laccone; Jutta Gärtne 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 49 KB 👁 2 views

Genomic structure of a human holocytochr

Genomic structure of a human holocytochromec-type synthetase gene in Xp22.3 and mutation analysis in patients with Rett syndrome

✍ Van den Veyver, Ignatia B.; Subramanian, Stephanie; Zoghbi, Huda Y. 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 21 KB 👁 1 views

The human holocytochrome c-type synthetase (HCCS) gene is located on Xp22.3 and is one of the genes identified in a 450-Kb region deleted in the neurodevelopmental disorder microphthalmia with linear skin defects. Several other developmental disorders with or without a neurological phenotype have be