catheterization

[키워드] abdominal surgeries abdominal surgery ACTG2 Actin Actins affected affecting arginine arginine residues bladder catheterization codon Cohort cohort of patient component components contractile protein contractile proteins CpG de novo mutation de novo mutations dependent on described description diagnosed dinucleotide disease disorder DNA ENCODE enteric smooth muscle Families Finnish followed by food gastrointestinal problem gastrointestinal problems Genes heterozygous heterozygous mutation Hypoperistalsis identify initial intestinal intestinal pseudo-obstruction intestine less majority megacystis megacystis-microcolon-intestinal hypoperistalsis syndrome microcolon Missense mutation Missense mutations missense variant MMIHS muscle muscle contractile units muscle disease Muscle function Mutation mutations obstruction organ parenteral nutrition Patient patients phenotype powerful tool provide radiologist remained responsible Sanger sequencing Smooth smooth muscle smooth muscle disease Spectrum subjects syndrome the disease total parenteral nutrition Treatment unique urinary catheterization variant visceral whole-exome sequencing γ2 enteric actin
[DOI] 10.1371/journal.pgen.1004258 PMC 바로가기 [Article Type] Research Article