Genotype–phenotype study of familial haemophagocytic lymphohistiocytosis type 3

BACKGROUND: Mutations of UNC13D are causative for familial haemophagocytic lymphohistiocytosis type 3 (FHL3; OMIM 608898). OBJECTIVE: To carry out a genotype–phenotype study of patients with FHL3. METHODS: A consortium of three countries pooled data on presenting features and mutations from individu...

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Hlavní autoři: Sieni, Elena, Cetica, Valentina, Santoro, Alessandra, Beutel, Karin, Mastrodicasa, Elena, Meeths, Marie, Ciambotti, Benedetta, Brugnolo, Francesca, zur Stadt, Udo, Pende, Daniela, Moretta, Lorenzo, Griffiths, Gillian M, Henter, Jan-Inge, Janka, Gritta, Aricò, Maurizio
Médium: Artigo
Jazyk:Inglês
Vydáno: 2011
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4115201/
https://ncbi.nlm.nih.gov/pubmed/21248318
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2010.085456
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