Spectrum of perforin gene mutations in familial hemophagocytic lymphohistiocytosis (FHL) patients in India

Blood Cells, Molecules, and Diseases

Volumn 54, Issue 3, 2015, Pages 250-257

  Mhatre, Snehal ^a   Madkaikar, Manisha ^a   Desai, Mukesh ^b   Ghosh, Kanjaksha ^a  

^a KEM HOSPITAL   (India)

^b B J WADIA HOSPITAL FOR CHILDREN   (India)

Author keywords

FHL; Genotye phenotype correlation; Molecular studies; Perforin gene; Pre natal diagnosis

Indexed keywords

PERFORIN;

ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE EXPRESSION; GENE INSERTION; GENE MUTATION; GENE SEQUENCE; GENETIC COUNSELING; GENETIC HETEROGENEITY; HEMOPHAGOCYTIC SYNDROME; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; INDIA; INFANT; MALE; MISSENSE MUTATION; MOLECULAR PATHOLOGY; MUTATIONAL ANALYSIS; NATURAL KILLER CELL; NONSENSE MUTATION; PRENATAL DIAGNOSIS; PRF1 GENE; PRIORITY JOURNAL; SCHOOL CHILD; SEQUENCE ANALYSIS; STOP CODON; YOUNG ADULT; ADOLESCENT; ASIAN CONTINENTAL ANCESTRY GROUP; GENETICS; LYMPHOHISTIOCYTOSIS, HEMOPHAGOCYTIC; METABOLISM; MUTATION; NEWBORN; PATHOLOGY; PRESCHOOL CHILD;

ADOLESCENT; ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; CHILD; CHILD, PRESCHOOL; FEMALE; HUMANS; INDIA; INFANT; INFANT, NEWBORN; KILLER CELLS, NATURAL; LYMPHOHISTIOCYTOSIS, HEMOPHAGOCYTIC; MALE; MUTATION; MUTATION, MISSENSE; PERFORIN; PRENATAL DIAGNOSIS; YOUNG ADULT;

EID: 84924002662     PISSN: 10799796     EISSN: 10960961     Source Type: Journal    
DOI: 10.1016/j.bcmd.2014.11.023     Document Type: Article

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