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Volumn 45, Issue 5, 2013, Pages 556-562

Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome

(30)  McDonell, Laura M a   Mirzaa, Ghayda M b   Alcantara, Diana c   Schwartzentruber, Jeremy d   Carter, Melissa T e   Lee, Leo J f   Clericuzio, Carol L g   Graham Jr, John M h   Morris Rosendahl, Deborah J i   Polster, Tilman j   Acsadi, Gyula k   Townshend, Sharron l   Williams, Simon m   Halbert, Anne m   Isidor, Bertrand n   David, Albert n   Smyser, Christopher D o   Paciorkowski, Alex R p   Willing, Marcia q   Woulfe, John r   more..


Author keywords

[No Author keywords available]

Indexed keywords

BINDING PROTEIN; CELL SURFACE RECEPTOR; MITOGEN ACTIVATED PROTEIN KINASE; RAS PROTEIN; UBIQUITIN CONJUGATING ENZYME;

EID: 84878608609     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.2602     Document Type: Article
Times cited : (89)

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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.