The TREAT-NMD DMD Global Database: Analysis of More than 7,000 Duchenne Muscular Dystrophy Mutations.

Analyzing the type and frequency of patient-specific mutations that give rise to Duchenne muscular dystrophy (DMD) is an invaluable tool for diagnostics, basic scientific research, trial planning, and improved clinical care. Locus-specific databases allow for the collection, organization, storage, and analysis of genetic variants of disease. Here, we describe the development and analysis of the TREAT-NMD DMD Global database (http://umd.be/TREAT_DMD/). We analyzed genetic data for 7,149 DMD mutations held within the database. A total of 5,682 large mutations were observed (80% of total mutations), of which 4,894 (86%) were deletions (1 exon or larger) and 784 (14%) were duplications (1 exon or larger). There were 1,445 small mutations (smaller than 1 exon, 20% of all mutations), of which 358 (25%) were small deletions and 132 (9%) small insertions and 199 (14%) affected the splice sites. Point mutations totalled 756 (52% of small mutations) with 726 (50%) nonsense mutations and 30 (2%) missense mutations. Finally, 22 (0.3%) mid-intronic mutations were observed. In addition, mutations were identified within the database that would potentially benefit from novel genetic therapies for DMD including stop codon read-through therapies (10% of total mutations) and exon skipping therapy (80% of deletions and 55% of total mutations).

L'Écho de Paris

1886/05/05 (Numéro 784).

Antiphonarium Lemovicense.

F. 1 Invitatoire. F. 3 Temporal de l'antiphonaire de l'office. F. 161 Fragment de psautier férial. Additions : Verset d'un répons du 2e ton, pour l'office de la Résurrection (fin XVIe s.) (Iv) ; — Antienne « Alleluia » pour le temps pascal ; — Hymne « O lux beata » (XVIe s.); — « Stationes per totum Adventum quae fiunt post completorium » (XVe s.) (165v) ; — Note relative à la translation de ste Valière à Saint-Michel de Limoges (1er mars 1524, n. st.) et invitatoire de Pâques (XVIe s.) (166). — Fragment d'un office de Pâques (sur pap., avec notation carrée sur 4 lignes rouges) (167).

Informe Final: Evaluación de satisfacción del cliente interno en la CCB 2009, Gerencia de Recursos Selección y Capacitación

Banco del conocimiento

Early Groundwork

Early groundwork at the site of the Physical Education Building.

Indenture between Hamilton K. Woodruff and Margaret Julia Band

Indenture (Registrar’s printed Certified Copy) between Hamilton K. Woodruff and Margaret Julia Band. This is in regard to parcels and tracts of land in the townships of Sherbourne (no.367), registered June 14, 1926 and Stanhope (no.784) registered Jan. 28, 1926 in the Provisional County of Haliburton, Nov. 3, 1942.

Sacrosanctum Oecomenicum Concilium Tridentinum additis declarationibus cardinalium concilii interpretum

UANL

Déjudiciarisation et divorce consensuel: Perspectives socio-juridiques

Faculté de droit

Les déterminants du taux de criminalité, Évidences empiriques des États-Unis.

Rapport de recherche

Electrical and Optical Properties of Znga2o4 Thin Films Deposited By Pulsed Laser Deposition

ZnGa2O4 spinel is a promising new UV transparent electronic conductor. Enhancing the electrical conductivity of this potential oxide phosphor can make it a promising transparent conducting oxide. In this paper, we have investigated the effects of processing and doping on the conductivity of semiconducting ZnGa2O4, particularly thin films. Crystalline zinc gallate thin films have been deposited on fused quartz substrates employing the pulsed laser deposition (PLD) technique at room temperature for an oxygen partial pressure of 0.1 Pa (0.001mbar). The films were found to be UV transparent, the band gap of which shifted to 4.75eV on hydrogen annealing. The band gap of the oxygen stoichiometric bulk powder samples (4.55eV) determined from diffuse reflection spectrum (DRS) shifted to 4.81eV on reduction in a hydrogen atmosphere. The electrical conductivity improved when Sn was incorporated into the ZnGa2O4 spinel. The conductivity of ZnGa2O4:Sn thin films was further improved on reduction.