𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Exclusion of WWP1 mutations in a cohort of dystroglycanopathy patients

✍ Scribed by Caroline Godfrey; Emma Clement; Stephen Abbs; Francesco Muntoni


Book ID
102536100
Publisher
John Wiley and Sons
Year
2011
Tongue
English
Weight
88 KB
Volume
44
Category
Article
ISSN
0148-639X

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


PINK1 mutations in a Brazilian cohort of
✍ Clecio Godeiro-Junior; Patricia M. de Carvalho-Aguiar; Andre C. FelΓ­cio; Orlando πŸ“‚ Article πŸ“… 2009 πŸ› John Wiley and Sons 🌐 English βš– 218 KB πŸ‘ 1 views

## Abstract Data on the frequency of __PINK1__ mutations in Brazilian patients with early‐onset Parkinson's disease (EOPD) are lacking. The aim of this report was to investigate mutations of the __PINK1__ gene in a cohort of Brazilian patients with EOPD. Sixty consecutive familial or sporadic EOPD

Exclusion of COL7A1 mutation in Kindler
✍ Kana Yasukawa; Kazuko C. Sato-Matsumura; James McMillan; Kikuo Tsuchiya; Hiroshi πŸ“‚ Article πŸ“… 2002 πŸ› Elsevier Science 🌐 English βš– 206 KB
MID1 mutation screening in a large cohor
✍ Rosa Ferrentino; Maria Teresa Bassi; David Chitayat; Elisabetta Tabolacci; Germa πŸ“‚ Article πŸ“… 2007 πŸ› John Wiley and Sons 🌐 English βš– 59 KB πŸ‘ 1 views

Communicated by Nancy B. Spinner Opitz G/BBB Syndrome (OS) is a multiple congenital anomaly disorder characterized by defects along the body midline. The disease is characterized by variable expressivity of signs that include hypertelorism, cleft lip and/or palate, laryngo-tracheo-esophageal abnorma