Autoimmune lymphoproliferative syndrome due to FAS mutations outside the signal-transducing death domain: Molecular mechanisms and clinical penetrance

Genetics in Medicine

Volumn 14, Issue 1, 2012, Pages 81-89

  Hsu, Amy P ^a   Dowdell, Kennichi C ^a   Davis, Joie ^a   Niemela, Julie E ^b   Anderson, Stacie M ^c   Shaw, Pamela A ^a   Rao, V Koneti ^a   Puck, Jennifer M ^d  

^a NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES   (United States)

^b NATIONAL INSTITUTES OF HEALTH   (United States)

^c NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^d UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

autoimmune lymphoproliferative syndrome; FAS; genotype phenotype correlation; haploinsufficiency; penetrance

Indexed keywords

FAS ANTIGEN; FAS LIGAND;

ARTICLE; AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME; CLINICAL ARTICLE; CONTROLLED STUDY; CORRELATION ANALYSIS; FRAMESHIFT MUTATION; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HAPLOINSUFFICIENCY; HUMAN; LIGAND BINDING; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PENETRANCE; PHENOTYPE; PROTEIN DOMAIN; PROTEIN EXPRESSION; RNA STABILITY;

EID: 85028121213     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.0b013e3182310b7d     Document Type: Article

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