An 11 base pair duplication in exon 6 of the SMN gene produces a type I spinal muscular atrophy (SMA) phenotype: Further evidence for SMN as the primary SMA-determining gene

Human Molecular Genetics

Volumn 5, Issue 11, 1996, Pages 1727-1732

  Parsons, D Williams ^a   McAndrew, Patricia E ^a   Monani, Umrao R ^a   Mendell, Jerry R ^a   Burghes, Arthur H M ^a,b   Prior, Thomas W ^a  

^a THE OHIO STATE UNIVERSITY COLLEGE OF MEDICINE   (United States)

^b 452 Means Hall ^*  (United States)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA;

ALLELE; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CHROMOSOME 5Q; CONTROLLED STUDY; EXON; FEMALE; FRAMESHIFT MUTATION; GENE DUPLICATION; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; HUMAN; HUMAN CELL; HUMAN TISSUE; MAJOR CLINICAL STUDY; MALE; MARKER GENE; MOTONEURON; NUCLEIC ACID BASE SUBSTITUTION; PHENOTYPE; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA ANALYSIS; SINGLE STRAND CONFORMATION POLYMORPHISM; SPINAL MUSCULAR ATROPHY;

ALLELES; CYCLIC AMP RESPONSE ELEMENT-BINDING PROTEIN; EXONS; FEMALE; FRAMESHIFT MUTATION; GENE DOSAGE; HUMANS; INFANT; MALE; NERVE TISSUE PROTEINS; PHENOTYPE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RNA, MESSENGER; RNA-BINDING PROTEINS; SPINAL MUSCULAR ATROPHIES OF CHILDHOOD;

EID: 0029827514     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/5.11.1727     Document Type: Article

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