Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures

Avoiding Recomputation in Linkage Analysis

Alejandro A. Sch auml ffer, Sandeep Gupta, Kartheek Medhavi Penagamuri Shriram et al. · Human Heredity · 1994 · 673 citations

Life Sciences, Genetics, Genomic Data Analysis +6

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

Life Sciences, Genetics, Molecular Genetics +9

Identification of mutations in the α3(IV) and α4(IV) collagen genes in autosomal recessive Alport syndrome

Toshio Mochizuki, Henny H. Lemmink, Mariko Mariyama et al. · Nature Genetics · 1994 · 515 citations

Life Sciences, Genetics, Molecular Genetics +9

β–sarcoglycan: characterization and role in limb–girdle muscular dystrophy linked to 4q12

Leland E. Lim, Franck Duclos, Odile Broux et al. · Nature Genetics · 1995 · 449 citations

Medicine, Biochemistry, Molecular Biology +10

β–sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex

Carsten G. Bönnemann, Raju Modi, S. Noguchi et al. · Nature Genetics · 1995 · 446 citations

Medicine, Genetics, Molecular Genetics +10