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Identification of five novel SPRED1 germline mutations in Legius syndrome.
Laycock-van Spyk, S; Jim, H P; Thomas, L; Spurlock, G; Fares, L; Palmer-Smith, S; Kini, U; Saggar, A; Patton, M; Mautner, V; Pilz, D T; Upadhyaya, M.
Clin Genet ; 80(1): 93-6, 2011 Jul.
Article in En | MEDLINE | ID: mdl-21649642
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Cafe-au-Lait Spots / Intracellular Signaling Peptides and Proteins / Membrane Proteins Type of study: Diagnostic_studies Limits: Adolescent / Adult / Child / Female / Humans / Male Language: En Journal: Clin Genet Year: 2011 Document type: Article Country of publication: Denmark
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Cafe-au-Lait Spots / Intracellular Signaling Peptides and Proteins / Membrane Proteins Type of study: Diagnostic_studies Limits: Adolescent / Adult / Child / Female / Humans / Male Language: En Journal: Clin Genet Year: 2011 Document type: Article Country of publication: Denmark