Welander Distal Myopathy Caused by an Ancient Founder Mutation in TIA1 Associated with Perturbed Splicing

Human Mutation

Volumn 34, Issue 4, 2013, Pages 572-577

  Klar, Joakim ^a   Sobol, Maria ^a   Melberg, Atle ^a   Mäbert, Katrin ^a   Ameur, Adam ^a   Johansson, Anna C V ^a   Feuk, Lars ^a   Entesarian, Miriam ^b   Örlén, Hanna ^a   Casar Borota, Olivera ^a   Dahl, Niklas ^a  

^a UPPSALA UNIVERSITY   (Sweden)

^b KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

Author keywords

Cellular stress; Founder mutation; Splicing; TIA1; Welander distal myopathy

Indexed keywords

MESSENGER RNA; PROTEIN T CELL INTRACELLULAR ANTIGEN 1; T LYMPHOCYTE ANTIGEN; UNCLASSIFIED DRUG;

ARTICLE; BALTIC SEA; CALCULATION; CARBOXY TERMINAL SEQUENCE; CELL INCLUSION; CELL STRESS; CLINICAL ARTICLE; CONTROLLED STUDY; DISTAL MYOPATHY; EXOME; EXON SKIPPING; FOUNDER EFFECT; GENE MUTATION; GENE SEQUENCE; HAPLOTYPE; HETEROZYGOSITY; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; MUSCLE BIOPSY; MUSCLE CELL; PRIORITY JOURNAL; RNA SPLICING; RNA TRANSLATION; SKELETAL MUSCLE; WELANDER DISTAL MYOPATHY;

ALTERNATIVE SPLICING; AMINO ACID SEQUENCE; BASE SEQUENCE; DISTAL MYOPATHIES; EXOME; EXONS; FOUNDER EFFECT; GENE EXPRESSION; HAPLOTYPES; HUMANS; MICROSATELLITE REPEATS; MOLECULAR SEQUENCE DATA; MUSCLE, SKELETAL; MUTATION; POLY(A)-BINDING PROTEINS; RNA SPLICING; SEQUENCE ALIGNMENT; SURVIVAL OF MOTOR NEURON 2 PROTEIN;

EID: 84874927677     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22282     Document Type: Article

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