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Publications by Ingrid K. Svenson

A Second Leaky Splice-Site Mutation in the Spastin Gene

American Journal of Human Genetics

English

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A Novel Aberrant Splice Site Mutation in the APC Gene

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A Novel Splice-Site Mutation in the GJB2 Gene Causing Mild Postlingual Hearing Impairment

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Corrigendum: Sarcoidosis Is Associated With a Truncating Splice Site Mutation in the Gene BTNL2

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A Mutation Hotspot at the P14ARF Splice Site

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Novel Splice Site IDUA Gene Mutation in Tunisian Pedigrees With Hurler Syndrome

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A Patient Severely Affected by Spinal Neurofibromas Carries a Recurrent Splice Site Mutation in the NF1 Gene

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Novel Hereditary Spherocytosis-Associated Splice Site Mutation in the ANK1 Gene Caused by Parental Gonosomal Mosaicism

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Mutation Analysis of the Spastin Gene (SPG4) in Patients With Hereditary Spastic Paraparesis

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Splice Receptor-Site Mutation C.697-2a>g of the COL1A1 Gene in a Chinese Family With Osteogenesis Imperfecta

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