Whole-exome sequencing of sickle cell disease patients with hyperhemolysis syndrome suggests a role for rare variation in disease predisposition

Transfusion

Volumn 58, Issue 3, 2018, Pages 726-735

  Mwesigwa, Savannah ^a,b,f   Moulds, Joann M ^c   Chen, Alice ^d   Flanagan, Jonathan ^a,e   Sheehan, Vivien A ^a,e   George, Alex ^e   Hanchard, Neil A ^a,b  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b Collaborative African Genomics Network ^*  (Botswana)

^c LifeShare Blood Centers   (United States)

^d St Luke's Episcopal Hospital   (United States)

^e TEXAS CHILDREN S HOSPITAL   (United States)

^f MAKERERE UNIVERSITY   (Uganda)

Author keywords

[No Author keywords available]

Indexed keywords

MANNOSE BINDING LECTIN 2;

ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; EXON; FEMALE; GENE; GENE REPLICATION; GENETIC PREDISPOSITION; GENETIC VARIATION; GENOTYPE; HEMOLYSIS; HIGH RISK POPULATION; HUMAN; INDEL MUTATION; KLRC3 GENE; LOSS OF FUNCTION MUTATION; MALE; MBL2 GENE; MUTATIONAL ANALYSIS; NONSENSE MEDIATED MRNA DECAY; PATHOGENESIS; PCSK6 GENE; SICKLE CELL ANEMIA; STOP CODON; WHOLE EXOME SEQUENCING; ADOLESCENT; COMPLICATION; EXOME; GENETICS; HIGH THROUGHPUT SEQUENCING; PRESCHOOL CHILD; SYNDROME;

ADOLESCENT; ADULT; ANEMIA, SICKLE CELL; CHILD; CHILD, PRESCHOOL; EXOME; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETIC VARIATION; HEMOLYSIS; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MALE; SYNDROME;

EID: 85038233914     PISSN: 00411132     EISSN: 15372995     Source Type: Journal    
DOI: 10.1111/trf.14431     Document Type: Article

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