Analysis of F9 point mutations and their correlation to severity of haemophilia B disease

Haemophilia

Volumn 18, Issue 6, 2012, Pages 933-940

  Hamasaki Katagiri, N ^a   Salari, R ^b   Simhadri, V L ^a   Tseng, S C ^a   Needlman, E ^a   Edwards, N C ^a   Sauna, Z E ^a   Grigoryan, V ^b   Komar, A A ^c   Przytycka, T M ^b   Kimchi Sarfaty, C ^a  

^a CENTER FOR BIOLOGICS EVALUATION AND RESEARCH   (United States)

^b NATIONAL INSTITUTES OF HEALTH   (United States)

^c CLEVELAND STATE UNIVERSITY   (United States)

Author keywords

Coagulation factor IX; Genotype phenotype association; Haemophilia B; in silico analysis; mRNA free energy; Predictive tools

Indexed keywords

AMINO ACID; BLOOD CLOTTING FACTOR 9; MESSENGER RNA;

AMINO ACID SEQUENCE; ARTICLE; CODON; DISEASE SEVERITY; DNA SEQUENCE; GENETIC ASSOCIATION; GENOTYPE PHENOTYPE CORRELATION; HEMOPHILIA B; HUMAN; MAJOR CLINICAL STUDY; NUCLEOTIDE SEQUENCE; POINT MUTATION; PRIORITY JOURNAL; PROTEIN SECONDARY STRUCTURE;

AMINO ACIDS; CATALYTIC DOMAIN; DATABASES, GENETIC; FACTOR IX; HEMOPHILIA B; HUMANS; HYDROPHOBIC AND HYDROPHILIC INTERACTIONS; POINT MUTATION; PROTEIN SORTING SIGNALS; RNA STABILITY; RNA, MESSENGER; SEVERITY OF ILLNESS INDEX; THERMODYNAMICS;

EID: 84868201215     PISSN: 13518216     EISSN: 13652516     Source Type: Journal    
DOI: 10.1111/j.1365-2516.2012.02848.x     Document Type: Article

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