A 13 base pair deletion in the GPIbβ gene in a second unrelated Bernard-Soulier family due to slipped mispairing between direct repeats [1]

Journal of Thrombosis and Haemostasis

Volumn 2, Issue 9, 2004, Pages 1663-1665

  Strassel, C ^a   Alessi, M C ^b   Juhan Vague, I ^b   Cazenave, J P ^a   Lanza, Francois ^a  

^a ETABLISSEMENT FRANÇAIS DU SANG   (France)

^b TIMONE HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; ASPARAGINE; CYSTEINE; GLYCOPROTEIN IB; SERINE; SIGNAL PEPTIDE; TYROSINE; VALINE; VON WILLEBRAND FACTOR;

AMINO ACID SUBSTITUTION; AUTOSOMAL RECESSIVE DISORDER; BASE MISPAIRING; BASE PAIRING; BERNARD SOULIER DISEASE; BINDING SITE; CASE REPORT; CHROMOSOME 22Q; CHROMOSOME DELETION; CLINICAL FEATURE; CONSANGUINEOUS MARRIAGE; DIGEORGE SYNDROME; FLOW CYTOMETRY; FRAMESHIFT MUTATION; GENE DELETION; GENE INSERTION; GENETIC DISORDER; HUMAN; LETTER; MALE; MISSENSE MUTATION; NONSENSE MUTATION; NUCLEOTIDE REPEAT; PRESCHOOL CHILD; PRIORITY JOURNAL; SAUDI ARABIA; SEQUENCE ANALYSIS; VELOCARDIOFACIAL SYNDROME;

AMINO ACID SEQUENCE; BASE SEQUENCE; BERNARD-SOULIER SYNDROME; CHILD, PRESCHOOL; CODON, NONSENSE; DNA; FEMALE; FRAMESHIFT MUTATION; HUMANS; MALE; MODELS, GENETIC; NUCLEIC ACID CONFORMATION; PLATELET GLYCOPROTEIN GPIB-IX COMPLEX; REPETITIVE SEQUENCES, NUCLEIC ACID; SEQUENCE DELETION;

EID: 13244299031     PISSN: 15387933     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1538-7836.2004.00895.x     Document Type: Letter

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