Six novel mutations in the PRF1 gene in children with haemophagocytic lymphohistiocytosis
R Clementi, U Zur Stadt, G Savoldi, S Varotto… - Journal of medical …, 2001 - jmg.bmj.com
R Clementi, U Zur Stadt, G Savoldi, S Varotto, V Conter, C De Fusco, LD Notarangelo…
Journal of medical genetics, 2001•jmg.bmj.comMaterials and methods We studied 10 families in which the index case fulfilled the
diagnostic criteria for HLH 4 and a careful family history was collected. Consanguinity was
investigated and when not evident the parents were asked to obtain further information
including the birth place of their ancestors. Clinical data were obtained from the attending
physicians and from thorough evaluation of records.
diagnostic criteria for HLH 4 and a careful family history was collected. Consanguinity was
investigated and when not evident the parents were asked to obtain further information
including the birth place of their ancestors. Clinical data were obtained from the attending
physicians and from thorough evaluation of records.
Materials and methods
We studied 10 families in which the index case fulfilled the diagnostic criteria for HLH 4 and a careful family history was collected. Consanguinity was investigated and when not evident the parents were asked to obtain further information including the birth place of their ancestors. Clinical data were obtained from the attending physicians and from thorough evaluation of records.
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