Functional characterization of twelve natural PROS1 mutations associated with anticoagulant protein S deficiency

Haematologica

Volumn 93, Issue 4, 2008, Pages 574-580

  Hurtado, Begoña ^a,e   Muñoz, Xavier ^a,e   Mulero, Maria Carme ^a   Navarro, Gemma ^b   Domènech, Pere ^c   García De Frutos, Pablo ^d   Pérez Riba, Mercè ^a   Sala, Núria ^a,e  

^a BELLVITGE BIOMEDICAL RESEARCH INSTITUTE IDIBELL   (Spain)

^b HOSPITAL DEL MAR   (Spain)

^c HOSPITAL UNIVERSITARI DE BELLVITGE   (Spain)

^d INSTITUT D INVESTIGACIONS BIOMÈDIQUES AUGUST PI I SUNYER IDIBAPS   (Spain)

^e CATALAN INSTITUTE OF ONCOLOGY   (Spain)

Author keywords

mRNA; Mutant protein; PROS1 mutations; Protein S deficiency

Indexed keywords

COMPLEMENTARY DNA; MESSENGER RNA; PLASMA PROTEIN; PROTEIN PROS1; UNCLASSIFIED DRUG;

ALLELE; ANIMAL CELL; ARTICLE; CONTROLLED STUDY; EXON; FRAMESHIFT MUTATION; GENE DELETION; HETEROZYGOSITY; HUMAN; MUTAGENESIS; NONHUMAN; NONSENSE MUTATION; PROTEIN ANALYSIS; PROTEIN EXPRESSION; PROTEIN FUNCTION; PROTEIN S DEFICIENCY; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA ANALYSIS; TRANSIENT EXPRESSION;

ANIMALS; CERCOPITHECUS AETHIOPS; CODON, NONSENSE; COS CELLS; FRAMESHIFT MUTATION; GENOTYPE; HUMANS; MUTAGENESIS, SITE-DIRECTED; MUTATION; MUTATION, MISSENSE; PROTEIN S; PROTEIN S DEFICIENCY; RECOMBINANT FUSION PROTEINS; RNA STABILITY; RNA, MESSENGER; SEQUENCE DELETION; TRANSFECTION;

EID: 42149167313     PISSN: 03906078     EISSN: None     Source Type: Journal    
DOI: 10.3324/haematol.12090     Document Type: Article

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