Rare complete loss of function provides insight into a pleiotropic genome-wide association study locus

Blood

Volumn 122, Issue 23, 2013, Pages 3845-3847

  Sankaran, Vijay G ^a,b   Joshi, Mugdha ^a   Agrawal, Akshat ^a   Schmitz Abe, Klaus ^a   Towne, Meghan C ^a   Marinakis, Nicholas ^a   Markianos, Kyriacos ^a   Berry, Gerard T ^a   Agrawal, Pankaj B ^a  

^a HARVARD MEDICAL SCHOOL   (United States)

^b BROAD INSTITUTE OF MIT AND HARVARD   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

HEMOGLOBIN A2; SPACER DNA; ELONGATION FACTOR; GUANINE NUCLEOTIDE BINDING PROTEIN; HBS1 PROTEIN, HUMAN; HEAT SHOCK PROTEIN 70; HEMOGLOBIN F;

ALLELE; BLADDER DIVERTICULUM; CASE REPORT; CHILD; CLEFT PALATE; DEVELOPMENTAL DELAY; EDITORIAL; FEMALE; GENE; GENE EXPRESSION; GENE FUNCTION; GENE LOCUS; GENOME-WIDE ASSOCIATION STUDY; HBS1L GENE; HUMAN; INTRAUTERINE GROWTH RETARDATION; JOINT LAXITY; LOSS OF FUNCTION MUTATION; MICROCEPHALY; MICROGNATHIA; MUSCLE HYPOTONIA; MYB GENE; NONSENSE MUTATION; PLEIOTROPY; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN FUNCTION; SANGER SEQUENCING; SCOLIOSIS; VESICOURETERAL REFLUX; WHOLE EXOME SEQUENCING; BLOOD; CHROMOSOME 6; GENETIC ASSOCIATION; GENETICS; HEMATOLOGIC DISEASE; METABOLISM; MUTATION; ONCOGENE MYB; PHENOTYPE;

CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 6; FEMALE; FETAL HEMOGLOBIN; GENES, MYB; GENOME-WIDE ASSOCIATION STUDY; GTP-BINDING PROTEINS; HEMATOLOGIC DISEASES; HSP70 HEAT-SHOCK PROTEINS; HUMANS; MUTATION; PEPTIDE ELONGATION FACTORS; PHENOTYPE;

EID: 84892885498     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2013-09-528315     Document Type: Editorial

References (10)

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