A family with bolzano-type Bernard-Soulier syndrome carries a benign A1939T MYH9 mutation

Platelets

Volumn 24, Issue 1, 2013, Pages 81-84

  Sarangi, Susmita N ^a   Golightly, Marc ^b   Weber, Jim ^c   Chan, Edward L ^b  

^a Hofstra Northwell Steven and Alexandra Cohen Children s Medical Center of NY Northwell Health   (United States)

^b STONY BROOK UNIVERSITY MEDICAL CENTER   (United States)

^c Prevention Genetics   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; CD36 ANTIGEN; FIBRINOGEN RECEPTOR; GLYCOPROTEIN IB ALPHA; RHESUS D ANTIBODY; THREONINE;

BERNARD SOULIER DISEASE; BLOOD SMEAR; CASE REPORT; CHILD; EXON; FAMILY HISTORY; FEMALE; FLOW CYTOMETRY; HUMAN; IDIOPATHIC THROMBOCYTOPENIC PURPURA; INHERITANCE; LETTER; MEDICAL HISTORY; MISSENSE MUTATION; MUTATIONAL ANALYSIS; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN EXPRESSION; SINGLE NUCLEOTIDE POLYMORPHISM; SKIN BRUISING; THROMBOCYTE COUNT; THROMBOCYTE VOLUME; THROMBOCYTOPENIA; UPPER RESPIRATORY TRACT INFECTION;

BERNARD-SOULIER SYNDROME; BLOOD PLATELETS; CHILD, PRESCHOOL; FEMALE; HUMANS; MOLECULAR MOTOR PROTEINS; MUTATION; MYOSIN HEAVY CHAINS; PEDIGREE; PLATELET MEMBRANE GLYCOPROTEINS;

EID: 84871743732     PISSN: 09537104     EISSN: 13691635     Source Type: Journal    
DOI: 10.3109/09537104.2012.658108     Document Type: Letter

References (8)

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