SINE exonic insertion in the PTPLA gene leads to multiple splicing defects and segregates with the autosomal recessive centronuclear myopathy in dogs

Human Molecular Genetics

Volumn 14, Issue 11, 2005, Pages 1417-1427

  Pelé, Manuel ^a   Tiret, Laurent ^a   Kessler, Jean Louis ^a   Blot, Stéphane ^a,b   Panthier, Jean Jacques ^a  

^a ECOLE NATIONALE VÉTÉRINAIRE D ALFORT   (France)

^b INSERM   (France)

Author keywords

[No Author keywords available]

Indexed keywords

MESSENGER RNA; PROTEIN TYROSINE PHOSPHATASE; PROTEIN TYROSINE PHOSPHATASE LIKE MEMBER A; TRANSFER RNA; UNCLASSIFIED DRUG;

ALLELE; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CENTRONUCLEAR MYOPATHY; CHROMOSOME 2; CONTROLLED STUDY; DISEASE ASSOCIATION; DOG; EXON; GENE INSERTION; GENE LOCUS; GENE MAPPING; GENE MUTATION; NONHUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; RNA SPLICING;

ANIMALS; BASE SEQUENCE; DNA; DOGS; EXONS; GENES, RECESSIVE; MOLECULAR SEQUENCE DATA; MUSCLE, SKELETAL; MUTATION; MYOPATHIES, STRUCTURAL, CONGENITAL; PROTEIN-TYROSINE-PHOSPHATASE; RNA SPLICING; RNA, MESSENGER; SHORT INTERSPERSED NUCLEOTIDE ELEMENTS;

ANIMALIA; CANIS FAMILIARIS; METAZOA;

EID: 20444433182     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/ddi151     Document Type: Article

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