A multicopy transcription-repair gene, BTF2p44, maps to the SMA region and demonstrates SMA associated deletions.

Carter, T A; Bönnemann, C G; Wang, C H; Obici, S; Parano, E; De Fatima Bonaldo, M; Ross, B M; Penchaszadeh, G K; Mackenzie, A; Soares, M B; Kunkel, L M; Gilliam, T C

Carter, T A; Bönnemann, C G; Wang, C H; Obici, S; Parano, E; De Fatima Bonaldo, M; Ross, B M; Penchaszadeh, G K; Mackenzie, A; Soares, M B; Kunkel, L M; Gilliam, T C.

Affiliation

Carter TA; Department of Genetics and Development, Columbia University, New York, NY, USA.

Hum Mol Genet ; 6(2): 229-36, 1997 Feb.

Article in En | MEDLINE | ID: mdl-9063743

Subject(s)

DNA Repair; Gene Deletion; Muscular Atrophy, Spinal/genetics; Nerve Tissue Proteins/genetics; Transcription Factors, TFII; Transcription Factors/genetics; Transcription, Genetic; Chromosome Mapping; Cyclic AMP Response Element-Binding Protein; Female; Gene Dosage; Genome; Humans; Male; Pedigree; RNA-Binding Proteins; SMN Complex Proteins; Survival of Motor Neuron 1 Protein; Transcription Factor TFIIH

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Collection: 01-internacional Database: MEDLINE Main subject: Transcription Factors / Transcription, Genetic / Muscular Atrophy, Spinal / Gene Deletion / Transcription Factors, TFII / DNA Repair / Nerve Tissue Proteins Type of study: Risk_factors_studies Limits: Female / Humans / Male Language: En Journal: Hum Mol Genet Year: 1997 Document type: Article

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