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Publications by J A Urtizberea

Mutational Diversity and Hot Spots in the Alpha-Sarcoglycan Gene in Autosomal Recessive Muscular Dystrophy (LGMD2D).

Journal of Medical Genetics
Genetics
1997English

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Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2I

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Noninvasive Prenatal Testing Spots Duchenne Muscular Dystrophy

American Journal of Medical Genetics, Part A
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Disruption of the Β-Sarcoglycan Gene Reveals Pathogenetic Complexity of Limb-Girdle Muscular Dystrophy Type 2E

Molecular Cell
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2000English

Congenital Muscular Dystrophy and .ALPHA.-dystroglycanopathy

Clinical Neurology
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2008English

Pathogenesis of Proximal Autosomal Recessive Spinal Muscular Atrophy

Acta Neuropathologica
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Identification of Lamin a/C ( LMNA ) Gene Mutations in Korean Patients With Autosomal Dominant Emery-Dreifuss Muscular Dystrophy and Limb-Girdle Muscular Dystrophy 1B

Journal of Human Genetics
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2002English

Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A

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