Intragenic telSMN mutations: frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number.

Parsons, D W; McAndrew, P E; Iannaccone, S T; Mendell, J R; Burghes, A H; Prior, T W

Parsons, D W; McAndrew, P E; Iannaccone, S T; Mendell, J R; Burghes, A H; Prior, T W.

Affiliation

Parsons DW; Department of Pathology, Ohio State University, Columbus, Ohio, USA.

Am J Hum Genet ; 63(6): 1712-23, 1998 Dec.

Article in En | MEDLINE | ID: mdl-9837824

Subject(s)

Founder Effect; Gene Dosage; Muscular Atrophy, Spinal/genetics; Mutation; Nerve Tissue Proteins/genetics; Alleles; Centromere/genetics; Cyclic AMP Response Element-Binding Protein; DNA Mutational Analysis; Exons/genetics; Frameshift Mutation/genetics; Fungal Proteins/metabolism; Heteroduplex Analysis; Heterozygote; Humans; Mutation, Missense; Nerve Tissue Proteins/metabolism; Phenotype; Polymorphism, Genetic; RNA-Binding Proteins; Reverse Transcriptase Polymerase Chain Reaction; SMN Complex Proteins; Sequence Deletion; Telomere/genetics

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Muscular Atrophy, Spinal / Gene Dosage / Founder Effect / Mutation / Nerve Tissue Proteins Limits: Humans Language: En Journal: Am J Hum Genet Year: 1998 Document type: Article Affiliation country: United States Country of publication: United States

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