✦ LIBER ✦

Carrier incidence for spinal muscular atrophy in southern Chinese

✍ Scribed by Vivian Chan; Ben Yip; Irene Yam; Patrick Au; Che-Kit Lin; Virginia Wong; Tai-Kwong Chan

Publisher: Springer
Year: 2004
Tongue: English
Weight: 227 KB
Volume: 251
Category: Article
ISSN: 0340-5354
DOI: 10.1007/s00415-004-0487-z

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Newborn and carrier screening for spinal

Newborn and carrier screening for spinal muscular atrophy

✍ Thomas W. Prior; Pamela J. Snyder; Britton D. Rink; Dennis K. Pearl; Robert E. P 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 183 KB

Genetic risk assessment in carrier testi

Genetic risk assessment in carrier testing for spinal muscular atrophy

✍ Ogino, Shuji ;Leonard, Debra G.B. ;Rennert, Hanna ;Ewens, Warren J. ;Wilson, Rob 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 86 KB

In vivo activation of SMN in spinal musc

In vivo activation of SMN in spinal muscular atrophy carriers and patients treated with valproate

✍ Lars Brichta; Irmgard Holker; Karsten Haug; Thomas Klockgether; Brunhilde Wirth 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 279 KB 👁 2 views

## Abstract ## Objective Spinal muscular atrophy results from loss of the survival motor neuron 1 (__SMN1__) gene and malfunction of the remaining __SMN2__. We investigated whether valproic acid can elevate human __SMN__ expression in vivo. ## Methods Blood was collected from 10 spinal muscular

High incidence of SMN1 gene deletion in

High incidence of SMN1 gene deletion in Moroccan adult-onset spinal muscular atrophy patients

✍ A. Bouhouche; A. Benomar; N. Birouk; N. Bouslam; R. Ouazzani; M. Yahyaoui; T. Ch 📂 Article 📅 2003 🏛 Springer 🌐 English ⚖ 215 KB

High incidence of asurvival motor neuron

High incidence of asurvival motor neurongene/cBCD541gene ratio of 2 in Japanese parents of spinal muscular atrophy patients: a characteristic background of spinal muscular atrophy in Japan?

✍ H. Nishio; Yukitoshi Ishikawa; Myeong Jin Lee; Yasuhiro Takeshima; Hiroko Wada; 📂 Article 📅 1999 🏛 Springer 🌐 English ⚖ 76 KB

Parents of children with spinal muscular

Parents of children with spinal muscular atrophy are not obligate carriers: Carrier testing is important for reproductive decision-making

✍ Zeesman, Susan ;Whelan, Donald T. ;Carson, Nancy ;McGowan-Jordan, Jean ;Stockley 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 71 KB