A novel mutation in adamts13 of a child with upshaw-schulman syndrome

Thrombosis and Haemostasis

Volumn 112, Issue 5, 2014, Pages 1065-1068

  Pérez Rodríguez, Almudena ^a,b   Batlle López, Ana ^c,d   Blanco, Rosa ^d   Varela, Ignacio ^d   León, Javier ^d   Dolores Delgado, M ^d   Lourés, Esther ^a,b   Rodríguez Trillo, Ángela ^a,b   García Rivero, Aránzazu ^e   Costa Pinto, Joana ^a,b   Batlle, Javier ^a,b   López Fernández, María Fernanda ^a,b  

^a HOSPITAL JUAN CANALEJO   (Spain)

^b UNIVERSITY OF SANTIAGO DE COMPOSTELA   (Spain)

^c HOSPITAL UNIVERSITARIO MARQUÉS DE VALDECILLA   (Spain)

^d UNIVERSITY OF CANTABRIA   (Spain)

^e Centro Oncologico de Galicia   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

HEMOGLOBIN; LACTATE DEHYDROGENASE; VON WILLEBRAND FACTOR CLEAVING PROTEINASE; ADAM PROTEIN; ADAMTS13 PROTEIN, HUMAN; HYBRID PROTEIN; STOP CODON;

ALLELE; CASE REPORT; CHILD; CONTROLLED STUDY; DENSITOMETRY; FRAMESHIFT MUTATION; GENE ACTIVITY; GENE MUTATION; GENETIC DISORDER; HUMAN; LETTER; MALE; PETECHIA; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; THROMBOCYTE COUNT; THROMBOCYTOPENIA; THROMBOCYTOPENIC PURPURA; UPSHAW SCHULMAN SYNDROME; BIOSYNTHESIS; CHEMISTRY; DEFICIENCY; DIAGNOSTIC ERROR; FEMALE; GENE DELETION; GENETIC TRANSFECTION; GENETICS; GENOTYPE; HEK293 CELL LINE; HETEROZYGOTE; INFANT; METABOLISM; MISSENSE MUTATION; PEDIGREE; PROTEIN STABILITY; PURPURA, THROMBOCYTOPENIC, IDIOPATHIC; PURPURA, THROMBOTIC THROMBOCYTOPENIC; STOP CODON;

ADAM PROTEINS; CODON, NONSENSE; DIAGNOSTIC ERRORS; FEMALE; FRAMESHIFT MUTATION; GENOTYPE; HEK293 CELLS; HETEROZYGOTE; HUMANS; INFANT; MALE; MUTATION, MISSENSE; PEDIGREE; PROTEIN STABILITY; PURPURA, THROMBOCYTOPENIC, IDIOPATHIC; PURPURA, THROMBOTIC THROMBOCYTOPENIC; RECOMBINANT FUSION PROTEINS; SEQUENCE DELETION; TRANSFECTION;

EID: 84908500475     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1160/TH14-02-0116     Document Type: Letter

References (16)

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