Variants of the ACTG2 gene correlate with degree of severity and presence of megacystis in chronic intestinal pseudo-obstruction

European Journal of Human Genetics

Volumn 24, Issue 8, 2016, Pages 1211-1215

  Matera, Ivana ^a   Rusmini, Marta ^a   Guo, Yiran ^b   Lerone, Margherita ^a   Li, Jiankang ^c   Zhang, Jianguo ^c   Di Duca, Marco ^a   Nozza, Paolo ^a   Mosconi, Manuela ^a   Prato, Alessio Pini ^a   Martucciello, Giuseppe ^a,d   Barabino, Arrigo ^a   Morandi, Francesco ^e   De Giorgio, Roberto ^f   Stanghellini, Vincenzo ^f   Ravazzolo, Roberto ^a,d   Devoto, Marcella ^b,g,h   Hakonarson, Hakon ^b   Ceccherini, Isabella ^a  

^a G GASLINI INSTITUTE   (Italy)

^b CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^c BGI SHENZHEN   (China)

^d UNIVERSITY OF GENOA   (Italy)

^e Ospedale Sacra Famiglia   (Italy)

^f UNIVERSITY OF BOLOGNA   (Italy)

^g UNIVERSITY OF PENNSYLVANIA   (United States)

^h SAPIENZA UNIVERSITY OF ROME   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

GAMMA 2 ENTERIC ACTIN PROTEIN; MICROTUBULE ASSOCIATED PROTEIN 2; MYOSIN HEAVY CHAIN; PROTEIN; UNCLASSIFIED DRUG; ACTG2 PROTEIN, HUMAN; ACTIN;

ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CYSTITIS; DISEASE SEVERITY; FAMILIAL DISEASE; FEMALE; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC IDENTIFICATION; GENOTYPE; HETEROZYGOTE; HUMAN; HUMAN TISSUE; INFANT; INTESTINE PSEUDOOBSTRUCTION; MALE; MEGACYSTIS; MEGACYSTIS MICROCOLON INTESTINAL HYPOPERISTALSIS SYNDROME; MISSENSE MUTATION; MUSCLE CONTRACTION; PHENOTYPIC VARIATION; PRIORITY JOURNAL; SCHOOL CHILD; WHOLE EXOME SEQUENCE; YOUNG ADULT; ABNORMALITIES; BLADDER; COLON; CONSERVED SEQUENCE; EXOME; GENETICS; MULTIPLE MALFORMATION SYNDROME; PATHOLOGY;

ABNORMALITIES, MULTIPLE; ACTINS; CHILD; COLON; CONSERVED SEQUENCE; EXOME; FEMALE; HETEROZYGOTE; HUMANS; INFANT; INTESTINAL PSEUDO-OBSTRUCTION; MALE; MUTATION, MISSENSE; URINARY BLADDER; YOUNG ADULT;

EID: 84955582228     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2015.275     Document Type: Article

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