A missense mutation in the extracellular domain of Fas: The most common change in argentinean patients with autoimmune lymphoproliferative syndrome represents a founder effect

Journal of Clinical Immunology

Volumn 32, Issue 6, 2012, Pages 1197-1203

  Simesen De Bielke, María Gabriela ^a   Yancoski, Judith ^a   Rocco, Carlos ^a   Pérez, Laura E ^a   Cantisano, Claudio ^b   Pérez, Néstor ^c   Oleastro, Matías ^a   Danielian, Silvia ^a  

^a HOSPITAL DE PEDIATRÍA PROF DR JUAN P GARRAHAN   (Argentina)

^b HOSPITAL GENERAL DE NIÑOS PEDRO DE ELIZALDE   (Argentina)

^c Hospital de Ninos Sor Maria Ludovica   (Argentina)

Author keywords

ALPS; Fas; founder effect; haplotype

Indexed keywords

FAS ANTIGEN; FAS PROTEIN, HUMAN; MICROSATELLITE DNA;

ALLELE; AMINO ACID SUBSTITUTION; ARGENTINA; ARTICLE; AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME; CHILD; CHROMOSOME; CLINICAL ARTICLE; CONSANGUINEOUS MARRIAGE; EXTRACELLULAR SPACE; FAS GENE; FEMALE; GENE FREQUENCY; GENE LOCUS; GENETIC ASSOCIATION; GENETIC VARIABILITY; HAPLOTYPE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; INFANT; MALE; MICROSATELLITE MARKER; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NEWBORN; PRIORITY JOURNAL; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; ADOLESCENT; ADULT; CASE CONTROL STUDY; DNA SEQUENCE; FOUNDER EFFECT; GENETICS; HETEROZYGOTE; HOMOZYGOTE; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; PATHOLOGY; PEDIGREE; PROTEIN TERTIARY STRUCTURE;

ADOLESCENT; ADULT; ALLELES; ANTIGENS, CD95; ARGENTINA; AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME; BASE SEQUENCE; CASE-CONTROL STUDIES; CHILD; FEMALE; FOUNDER EFFECT; HAPLOTYPES; HETEROZYGOTE; HOMOZYGOTE; HUMANS; MALE; MICROSATELLITE REPEATS; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN STRUCTURE, TERTIARY; SEQUENCE ANALYSIS, DNA;

EID: 84878231282     PISSN: 02719142     EISSN: 15732592     Source Type: Journal    
DOI: 10.1007/s10875-012-9731-y     Document Type: Article

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