Concepedia

Mutations in COL6A3 Cause Severe and Mild Phenotypes of Ullrich Congenital Muscular Dystrophy

Ercan Demir, Patrizia Sabatelli, Valérie Allamand, Ana Ferreiro, Behzad Moghadaszadeh, Mohamed Makrelouf, Haluk Topaloğlu, Bernard Échenne, Luciano Merlini, Pascale Guicheney

The American Journal of Human Genetics · 2002 · 169 citations · 45 references

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45

Comprehensive Human Genetic Maps: Individual and Sex-Specific Variation in Recombination

Karl W. Broman, Jeffrey C. Murray, Val C. Sheffield et al. · The American Journal of Human Genetics · 1998 · 1.1K citations · Full text

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A missense mutation in the αB-crystallin chaperone gene causes a desmin-related myopathy

Patrick Vicart, Anne Caron, Pascale Guicheney et al. · Nature Genetics · 1998 · 1.1K citations

, , +15

Mutations in the laminin α2–chain gene (LAMA2) cause merosin–deficient congenital muscular dystrophy

A. Leclerc, Xu Zhang, Haluk Topaloğlu et al. · Nature Genetics · 1995 · 628 citations

, , +9

Disorders of Voluntary Muscle

The Medical Journal of Australia · 1965 · 591 citations

, , +2

Extracellular matrix assembly and structure

General Pharmacology The Vascular System · 1995 · 450 citations

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