Structural and functional analysis of perforin mutations in association with clinical data of familial hemophagocytic lymphohistiocytosis type 2 (FHL2) patients

Protein Science

Volumn 22, Issue 6, 2013, Pages 823-839

  An, Omer ^a   Gursoy, Attila ^a   Gurgey, Aytemiz ^b   Keskin, Ozlem ^a  

^a KOÇ UNIVERSITY   (Turkey)

^b HACETTEPE UNIVERSITY   (Turkey)

Author keywords

Familial hemophagocytic lymphohistiocytosis; FHL2; FHL2 patients; Perforin gene mutations; Structural analysis

Indexed keywords

MONOMER; PERFORIN;

ARTICLE; COMPUTER MODEL; ENERGY; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; HEMOPHAGOCYTIC SYNDROME; HUMAN; MISSENSE MUTATION; OLIGOMERIZATION; PRIORITY JOURNAL; PROTEIN FUNCTION; PROTEIN STRUCTURE;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; LYMPHOHISTIOCYTOSIS, HEMOPHAGOCYTIC; MALE; MODELS, MOLECULAR; MUTATION, MISSENSE; PERFORIN; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN CONFORMATION; YOUNG ADULT;

EID: 84881309795     PISSN: 09618368     EISSN: 1469896X     Source Type: Journal    
DOI: 10.1002/pro.2265     Document Type: Article

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