𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Prevalence of the 550delA mutation in calpainopathy (LGMD 2A) in Croatia

✍ Scribed by Canki-Klain, Nina ;Milic, Astrid ;Kovac, Biserka ;Trlaja, Anuska ;Grgicevic, Damir ;Zurak, Niko ;Fardeau, Michel ;Leturcq, France ;Kaplan, Jean-Claude ;Urtizberea, J. Andoni ;Politano, Luisa ;Piluso, Giulio ;Feingold, Josue


Publisher
John Wiley and Sons
Year
2004
Tongue
English
Weight
104 KB
Volume
125A
Category
Article
ISSN
0148-7299

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


High incidence of 550delA mutation of CA
✍ T.V. Pogoda; I.N. Krakhmaleva; N.A. Lipatova; N.I. Shakhovskaya; S.S. Shishkin; πŸ“‚ Article πŸ“… 2000 πŸ› John Wiley and Sons 🌐 English βš– 29 KB

Autosomal recessive limb gird muscular dystrophy (LGMD2) is a clinically and genetically heterogeneous group of diseases that are characterized by progressive atrophy and weakness of the proximal limb muscles. At least eight genetic loci leading to LGMD2 are recognized. The proportion of particular

Prevalence of the BRCA2 6174 del T mutat
✍ Jose Iscovich; Mohammed Abdulrazik; Carol Cour; Alf Fischbein; Jacob Pe'er; Davi πŸ“‚ Article πŸ“… 2002 πŸ› John Wiley and Sons 🌐 French βš– 61 KB πŸ‘ 1 views

## Abstract Substantial differences exist in the incidence rates of uveal melanoma (UM) among Israeli Jewish subpopulations: high in immigrants from North America and Europe (Ashkenazic) and low in immigrants from Africa and Asia (Sepharadic). This trend persists in Israeli‐born individuals when st

Prevalence, segregation, and phenotype o
✍ Johanna Uusimaa; Jukka S. Moilanen; Leena VainionpÀÀ; PΓ€ivi Tapanainen; PΓ€ivi Li πŸ“‚ Article πŸ“… 2007 πŸ› John Wiley and Sons 🌐 English βš– 212 KB πŸ‘ 2 views

## Abstract ## Objective We studied the prevalence, segregation, and phenotype of the mitochondrial DNA 3243A>G mutation in children in a defined population in Northern Ostrobothnia, Finland. ## Methods Children with diagnoses commonly associated with mitochondrial diseases were ascertained. Blo