14-3-3ε Gene variants in a Japanese patient with left ventricular noncompaction and hypoplasia of the corpus callosum

Gene

Volumn 515, Issue 1, 2013, Pages 173-180

  Chang, Bo ^a,e   Gorbea, Carlos ^b   Lezin, George ^b   Li, Ling ^b   Shan, Lishen ^a,e   Sakai, Norio ^c   Kogaki, Shigetoyo ^c   Otomo, Takanobu ^c   Okinaga, Takeshi ^c   Hamaoka, Akiko ^d   Yu, Xianyi ^e   Hata, Yukiko ^a   Nishida, Naoki ^a   Yost, H Joseph ^b   Bowles, Neil E ^b   Brunelli, Luca ^b   Ichida, Fukiko ^a  

^a UNIVERSITY OF TOYAMA   (Japan)

^b UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^c OSAKA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^d Kyoto Medical School   (Japan)

^e CHINA MEDICAL UNIVERSITY   (China)

Author keywords

14 3 3 proteins; Brain development; Cardiomyopathy; Myocardial morphogenesis; Ventricular noncompaction; YWHAE variants

Indexed keywords

ADAPTOR PROTEIN; CCAAT ENHANCER BINDING PROTEIN; CCAAT ENHANCER BINDING PROTEIN BETA; PROTEIN 14 3 3; UNCLASSIFIED DRUG; YWHAE PROTEIN;

ARTICLE; BRAIN DEVELOPMENT; CONTROLLED STUDY; CORPUS CALLOSUM AGENESIS; DISEASE COURSE; DNA SEQUENCE; FEMALE; GENE ACTIVITY; GENE MUTATION; GENETIC RISK; GENETIC VARIABILITY; HUMAN; HYPOPLASIA; JAPANESE; MAJOR CLINICAL STUDY; MALE; MILLER DIEKER SYNDROME; MORPHOGENESIS; NERVE CELL DIFFERENTIATION; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN FUNCTION; VENTRICULAR NONCOMPACTION;

14-3-3 PROTEINS; AGENESIS OF CORPUS CALLOSUM; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; CORPUS CALLOSUM; EXONS; FATAL OUTCOME; FEMALE; GENE FREQUENCY; GENETIC VARIATION; HUMANS; INFANT; INFANT, NEWBORN; ISOLATED NONCOMPACTION OF THE VENTRICULAR MYOCARDIUM; JAPAN; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PROMOTER REGIONS, GENETIC;

MUS;

EID: 84872267279     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2012.12.049     Document Type: Article

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