Identification of a novel SBF2 missense mutation associated with a rare case of thrombocytopenia using whole-exome sequencing

Journal of Thrombosis and Thrombolysis

Volumn 36, Issue 4, 2013, Pages 501-506

  Abuzenadah, Adel M ^a   Zaher, Galila F ^b   Dallol, Ashraf ^a   Damanhouri, Ghazi A ^b   Chaudhary, Adeel G ^a   Al Sayes, Faten ^b   Gari, Mamdooh A ^a   Alzahrani, Mofareh ^c   Hindawi, Salwa ^b   Al Qahtani, Mohammed H ^a  

^a KING ABDULAZIZ UNIVERSITY   (Saudi Arabia)

^b King Abdulaziz University   (Saudi Arabia)

^c KING FAHAD MEDICAL CITY   (Saudi Arabia)

Author keywords

SBF2; Thrombocytopenia; Whole exome sequencing

Indexed keywords

ARGININE; CYTOSINE; DNA; GUANINE; IMMUNOGLOBULIN; PHOSPHATASE; PROTEIN DENN; RAB PROTEIN; RHESUS D ANTIBODY; RITUXIMAB; STEROID; THREONINE; UNCLASSIFIED DRUG;

AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BLEEDING; CASE REPORT; CHEDIAK HIGASHI SYNDROME; CHILD; CONGENITAL THROMBOCYTOPENIA; DISEASE SEVERITY; DNA SEQUENCE; DRUG TREATMENT FAILURE; EXOME; FEMALE; GENE; GENE SEGREGATION; GENETIC ASSOCIATION; GENETIC CONSERVATION; GENETIC VARIABILITY; GRISCELLI SYNDROME; HEREDITARY MOTOR SENSORY NEUROPATHY; HETEROZYGOTE; HOMOZYGOTE; HUMAN; IDIOPATHIC THROMBOCYTOPENIC PURPURA; LYMPHOCYTE COUNT; LYMPHOCYTOSIS; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN CONFORMATION; PROTEIN DOMAIN; PROTEIN FUNCTION; RARE DISEASE; SBF2 GENE; SEQUENCE ALIGNMENT; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; THROMBOCYTE COUNT; THROMBOCYTOPENIA;

AMINO ACID SUBSTITUTION; CHILD; DNA MUTATIONAL ANALYSIS; EXOME; FEMALE; GENETIC DISEASES, INBORN; HUMANS; MUTATION, MISSENSE; PROTEIN TYROSINE PHOSPHATASES, NON-RECEPTOR; THROMBOCYTOPENIA;

EID: 84889084654     PISSN: 09295305     EISSN: 1573742X     Source Type: Journal    
DOI: 10.1007/s11239-012-0864-x     Document Type: Article

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