Exome sequencing reveals a thrombopoietin ligand mutation in a Micronesian family with autosomal recessive aplastic anemia

Blood

Volumn 122, Issue 20, 2013, Pages 3440-3449

  Dasouki, Majed J ^a   Rafi, Syed K ^c   Olm Shipman, Adam J ^c   Wilson, Nathan R ^c   Abhyankar, Sunil ^a   Ganter, Brigitte ^d   Furness, L Mike ^d   Fang, Jianwen ^e   Calado, Rodrigo T ^b   Saadi, Irfan ^c  

^a UNIVERSITY OF KANSAS MEDICAL CENTER   (United States)

^b UNIVERSITY OF SÃO PAULO   (Brazil)

^c UNIVERSITY OF KANSAS SCHOOL OF MEDICINE   (United States)

^d DNAnexus   (United States)

^e UNIVERSITY OF KANSAS   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; CYCLOSPORIN A; CYSTEINE; FAM75A6 PROTEIN; FOXJ1 PROTEIN; GENOMIC DNA; INTERLEUKIN 1 RECEPTOR BLOCKING AGENT; LRRC16A PROTEIN; MUC12 PROTEIN; PEPTIDES AND PROTEINS; PREDNISONE; PRSS2 PROTEIN; SIGNAL PEPTIDE; TELOMERASE; THROMBOPOIETIN; THROMBOPOIETIN RECEPTOR; THYMOCYTE ANTIBODY; UNCLASSIFIED DRUG; CYSTINE; MPL PROTEIN, HUMAN; PROTEIN BINDING;

ADULT; AMINO ACID SUBSTITUTION; APLASTIC ANEMIA; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BROTHER; CASE REPORT; CELL PROLIFERATION; CLINICAL EVALUATION; COMPUTER MODEL; CONSERVED SEQUENCE; CONTROLLED STUDY; CORTICOSTEROID THERAPY; DISULFIDE BOND; FATHER; FEMALE; GENE DISRUPTION; GENETIC VARIABILITY; HETEROZYGOTE; HOMOZYGOTE; HUMAN; HUMAN CELL; LOSS OF FUNCTION MUTATION; MEGAKARYOBLAST; MICRONESIAN; MISSENSE MUTATION; MOTHER; MUTANT; NEXT GENERATION SEQUENCING; PRIORITY JOURNAL; PROTEIN STRUCTURE; RECEPTOR BINDING; RECEPTOR BINDING DOMAIN; SIBLING; SINGLE NUCLEOTIDE POLYMORPHISM; SISTER; TELOMERE LENGTH; THROMBOCYTE COUNT; THROMBOCYTOPENIA; WHOLE EXOME SEQUENCING; WILD TYPE; YOUNG ADULT; ADOLESCENT; ANEMIA, APLASTIC; CELL CULTURE; CHEMICAL STRUCTURE; CHEMISTRY; CHILD; COMPARATIVE GENOMIC HYBRIDIZATION; EXOME; EXON; FEDERATED STATES OF MICRONESIA; GENETICS; GENOTYPE; MALE; METABOLISM; MIDDLE AGED; MOLECULAR CLONING; MOLECULAR GENETICS; MOLECULARLY TARGETED THERAPY; NUCLEOTIDE SEQUENCE; PEDIGREE; PROTEIN CONFORMATION; RECESSIVE GENE; SEQUENCE ALIGNMENT; SEQUENCE HOMOLOGY; STRUCTURE ACTIVITY RELATION;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ANEMIA, APLASTIC; BASE SEQUENCE; CELLS, CULTURED; CHILD; CLONING, MOLECULAR; COMPARATIVE GENOMIC HYBRIDIZATION; CYSTINE; EXOME; EXONS; FEMALE; GENES, RECESSIVE; GENOTYPE; HUMANS; MALE; MICRONESIA; MIDDLE AGED; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MOLECULAR TARGETED THERAPY; MUTATION, MISSENSE; PEDIGREE; PROTEIN BINDING; PROTEIN CONFORMATION; RECEPTORS, THROMBOPOIETIN; SEQUENCE ALIGNMENT; SEQUENCE HOMOLOGY, NUCLEIC ACID; STRUCTURE-ACTIVITY RELATIONSHIP; THROMBOPOIETIN; YOUNG ADULT;

EID: 84892420223     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2012-12-473538     Document Type: Article

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