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

Human Molecular Genetics

Volumn 6, Issue 2, 1997, Pages 229-236

  Carter, Todd A ^a   Bönnemann, Carsten G ^d   Wang, Ching H ^a   Obici, Silvana ^b,c   Parano, Enrico ^g   Bonaldo, Maria De Fatima ^b,c   Ross, Barbara M ^b,c   Penchaszadeh, Graciela K ^b,c   Mackenzie, Alex ^e,f   Soares, Marcelo Bento ^b,c   Kunkel, Louis M ^d   Gilliam, T Conrad ^a,b,c  

^a Dept of Genetics and Development ^*  (United States)

^b Och Spine at New York Presbyterian Hospitals   (United States)

^c NEW YORK STATE PSYCHIATRIC INSTITUTE   (United States)

^d BOSTON CHILDREN S HOSPITAL   (United States)

^e CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

^f UNIVERSITY OF OTTAWA   (Canada)

^g UNIVERSITY OF CATANIA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

TRANSCRIPTION FACTOR;

ANTERIOR HORN CELL; APOPTOSIS; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHROMOSOME 5Q; DELETION MUTANT; DISEASE SEVERITY; DNA REPAIR; DNA TRANSCRIPTION; GENE DUPLICATION; GENE MAPPING; HEREDITARY SPINAL MUSCULAR ATROPHY; HUMAN; HUMAN TISSUE; NERVE CELL; PRIORITY JOURNAL; TELOMERE;

CHROMOSOME MAPPING; CYCLIC AMP RESPONSE ELEMENT-BINDING PROTEIN; DNA REPAIR; FEMALE; GENE DELETION; GENE DOSAGE; GENOME; HUMANS; MALE; MUSCULAR ATROPHY, SPINAL; NERVE TISSUE PROTEINS; PEDIGREE; RNA-BINDING PROTEINS; TRANSCRIPTION FACTOR TFIIH; TRANSCRIPTION FACTORS; TRANSCRIPTION FACTORS, TFII; TRANSCRIPTION, GENETIC;

EID: 8044226616     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/6.2.229     Document Type: Article

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