Familial haemophagocytic lymphohistiocytosis in patients who are heterozygous for the A91V perforin variation is often associated with other genetic defects.
Zhang
K
K
Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Department of Pediatrics, College of Medicine, University of Cincinnati, OH 45255, USA. kejian.zhang@cchmc.org
Johnson
J A
JA
Biroschak
J
J
Villanueva
J
J
Lee
S Molleran
SM
Bleesing
J J
JJ
Risma
K A
KA
Wenstrup
R J
RJ
Filipovich
A H
AH
D000409:Alanine / Q000235:genetics; D019943:Amino Acid Substitution / Q000235:genetics*; D005192:Family Health; D006580:Genetic Carrier Screening; D005838:Genotype; D006801:Humans; D051359:Lymphohistiocytosis, Hemophagocytic / Q000235:genetics* / Q000276:immunology; D008562:Membrane Glycoproteins / Q000235:genetics*; D020125:Mutation, Missense; D054353:Perforin; D052899:Pore Forming Cytotoxic Proteins / Q000235:genetics*; D014633:Valine / Q000235:genetics
D008562:Membrane Glycoproteins; D052899:Pore Forming Cytotoxic Proteins; D054353:Perforin; D014633:Valine; D000409:Alanine