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European Journal of Human Genetics
Volumn 24, Issue 4, 2016, Pages 611-614
Mosaic parental germline mutations causing recurrent forms of malformations of cortical development

(36)  Zillhardt, Julia Lauer a,b   Poirier, Karine a   Broix, Loc a,c   Lebrun, Nicolas a   Elmorjani, Adrienne a   Martinovic, Jelena d   Saillour, Yoann a   Muraca, Giuseppe a   Nectoux, Juliette a,e   Bessieres, Bettina f   Fallet Bianco, Catherine g   Lyonnet, Stanislas h   Dulac, Olivier i,j,k   Odent, Sylvie l   Rejeb, Imen m   Ben Jemaa, Lamia m   Rivier, Francois n   Pinson, Lucile n   Geneviève, David n   Musizzano, Yuri o   more..

i INSERM   (France)
Author keywords

[No Author keywords available]
Indexed keywords

DNA; LACTB PROTEIN; PROTEIN; SYNTAXIN; SYNTAXIN 7; UNCLASSIFIED DRUG;
EID: 84960378632     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2015.192     Document Type: Article
Times cited : (32)
References (7)
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    • Poirier K, Lebrun N, Broix L et al: Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly. Nat Genet 2013; 45: 639-647
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    • Human syntaxin 7: A Pep12p/Vps6p homologue implicated in vesicle trafficking to lysosomes
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.