Mutation analysis of "Endoglin" and "Activin receptor-like kinase" genes in German patients with hereditary hemorrhagic telangiectasia and the value of rapid genotyping using an allele-specific PCR-technique

BMC Medical Genetics

Volumn 10, Issue , 2009, Pages

  Haneen, Sadick ^a   Johanna, Hage ^a   Ulrich, Goessler ^a   Jens, Stern Straeter ^a   Frank, Riedel ^a   Karl, Hoermann ^a   Peter, Bugert ^b  

^a UNIVERSITY OF HEIDELBERG   (Germany)

^b UNIVERSITY OF HEIDELBERG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ACTIVIN RECEPTOR LIKE KINASE 1; ENDOGLIN; MESSENGER RNA; ACTIVIN RECEPTOR 2; ACVRL1 PROTEIN, HUMAN; CELL SURFACE RECEPTOR; ENG PROTEIN, HUMAN; LEUKOCYTE ANTIGEN;

ALLELE; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DNA ISOLATION; GENE AMPLIFICATION; GENE DELETION; GENE INSERTION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; GERMANY; HUMAN; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PULMONARY ARTERIOVENOUS FISTULA; RENDU OSLER WEBER DISEASE; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; ADULT; AGED; FEMALE; GENETICS; MALE; MIDDLE AGED; MUTATION; PEDIGREE; PHENOTYPE;

ACTIVIN RECEPTORS, TYPE II; ADULT; AGED; AGED, 80 AND OVER; ALLELES; ANTIGENS, CD; DNA MUTATIONAL ANALYSIS; FEMALE; GENOTYPE; GERMANY; HUMANS; MALE; MIDDLE AGED; MUTATION; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE NUCLEOTIDE; RECEPTORS, CELL SURFACE; TELANGIECTASIA, HEREDITARY HEMORRHAGIC;

EID: 67649331985     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-10-53     Document Type: Article

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