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Digitale Medien

Genetic analysis of familial erythrophagocytic lymphohistiocytosis (1984)

Gencik, A. ; Signer, E. ; Müller, Hj.

Springer

European journal of pediatrics 142 (1984), S. 248-252

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ISSN: 1432-1076

Schlagwort(e): Familial erythrophagocytic lymphohistiocytosis ; Genetic analysis ; Consanguinity rate ; Autosomal recessive inheritance

Quelle: Springer Online Journal Archives 1860-2000

Thema: Medizin

Notizen: Abstract A family with two patients suffering from familial erythrophagocytic lymphohistiocytosis (FEL) is described. Reports on FEL found in the literature were collected and the family trees reconstructed. Genetic analysis of this material indicated that FEL is an autosomal recessive hereditary disease. This conclusion is supported by the following evidence: considerably increased consanguinity rate; complete concordance in monozygotic twins; more frequent occurrence in inbred populations and in cousins; limitation of cases to one generation, and results of segregation analysis.

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1007/BF00540245

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