Phenotypic expansion of visceral myopathy associated with ACTG2 tandem base substitution

European Journal of Human Genetics

Volumn 23, Issue 12, 2015, Pages 1679-1683

  Klar, Joakim ^a   Raykova, Doroteya ^a   Gustafson, Elisabet ^b   Tóthová, Iveta ^a,c   Ameur, Adam ^a   Wanders, Alkwin ^a   Dahl, Niklas ^a  

^a UPPSALA UNIVERSITY   (Sweden)

^b UPPSALA UNIVERSITY   (Sweden)

^c UNIVERSITY OF PRE OV   (Slovakia)

Author keywords

[No Author keywords available]

Indexed keywords

SMOOTH MUSCLE ACTIN; ACTG2 PROTEIN, HUMAN; ACTIN;

ACTG2 GENE; ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; EXOME; FAMILIAL VISCERAL MYOPATHY; FEMALE; GASTROINTESTINAL SYMPTOM; GENE; GENE SEQUENCE; GENETIC VARIABILITY; HUMAN; INTESTINE PSEUDOOBSTRUCTION; MALE; MIDDLE AGED; MYOPATHY; NUCLEIC ACID BASE SUBSTITUTION; PHENOTYPE; PRIORITY JOURNAL; SCHOOL CHILD; TANDEM BASE SUBSTITUTION; UTERUS CONTRACTION; YOUNG ADULT; ABNORMALITIES; ADOLESCENT; AMINO ACID SEQUENCE; BLADDER; CHEMISTRY; DUODENUM; GENETICS; INTESTINAL PSEUDO-OBSTRUCTION; MISSENSE MUTATION; MOLECULAR GENETICS; PEDIGREE;

ACTINS; ADOLESCENT; ADULT; AMINO ACID SEQUENCE; CHILD; DUODENUM; FEMALE; HUMANS; INTESTINAL PSEUDO-OBSTRUCTION; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; URINARY BLADDER;

EID: 84948716672     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2015.49     Document Type: Article

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