Filamin A is mutated in X-linked chronic idiopathic intestinal pseudo-obstruction with central nervous system involvement

American Journal of Human Genetics

Volumn 80, Issue 4, 2007, Pages 751-758

  Gargiulo, Annagiusi ^a,b   Auricchio, Renata ^a,c,d   Barone, Maria Vittoria ^c,d   Cotugno, Gabriella ^a,e   Reardon, William ^f   Milla, Peter J ^g   Ballabio, Andrea ^a,c   Ciccodicola, Alfredo ^b   Auricchio, Alberto ^a,c,h  

^a TELETHON INSTITUTE OF GENETICS AND MEDICINE TIGEM   (Italy)

^b INSTITUTE OF GENETICS AND BIOPHYSICS ADRIANO BUZZATI TRAVERSO   (Italy)

^c UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^d European Laboratory for the Investigation of Food Induced Diseases   (Italy)

^e European School of Molecular Medicine   (Italy)

^f OUR LADY S CHILDREN S HOSPITAL   (Ireland)

^g UNIVERSITY COLLEGE LONDON   (United Kingdom)

^h NONE   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ACTIN; FILAMIN A; METHIONINE; MUTANT PROTEIN;

ACTIN FILAMENT; ADULT; AMINO TERMINAL SEQUENCE; ANIMAL TISSUE; ARTICLE; CELL CULTURE; CENTRAL NERVOUS SYSTEM DISEASE; CHILD; CHROMOSOME MAP; CLINICAL ARTICLE; CONTROLLED STUDY; CYTOSKELETON; DISEASE ASSOCIATION; EMBRYO; EXON; FEMALE; FLNA GENE; FRAMESHIFT MUTATION; GENE; GENE DELETION; GENE IDENTIFICATION; GENE INSERTION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENOTYPE PHENOTYPE CORRELATION; HETEROTOPIA; HETEROZYGOTE; HUMAN; HUMAN CELL; INFANT; INTESTINE INNERVATION; INTESTINE PSEUDOOBSTRUCTION; LYMPHOBLAST; LYMPHOBLASTOID CELL LINE; MALE; MOUSE; NONHUMAN; PRIORITY JOURNAL; PROTEIN EXPRESSION; RECESSIVE INHERITANCE; TRANSIENT EXPRESSION; X CHROMOSOME LINKAGE;

MURINAE;

EID: 34147130212     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/513321     Document Type: Article

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