Detection of a significant association between mutations in the ACVRL1 gene and hepatic involvement in German patients with hereditary haemorrhagic telangiectasia

Clinical Genetics

Volumn 74, Issue 2, 2008, Pages 171-177

  Brakensiek, Kai ^a   Frye Boukhriss, H ^a   Malzer M ^a   Abramowicz, M ^b   Bahr, M J ^a   von Beckerath, N ^c   Bergmann, C ^d   Caselitz, M ^a,e   Holinski Feder, E ^f   Muschke, P ^g   Oexle, K ^h   Strobl Wildemann, G ⁱ   Wolff, G ^j   El Harith, E A ^a   Stuhrmann, M ^a  

^a HANNOVER MEDICAL SCHOOL   (Germany)

^b FREE UNIVERSITY OF BRUSSELS   (Belgium)

^c TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^d UNIVERSITY HOSPITAL RWTH AACHEN   (Germany)

^e Klinikum Deggendorf   (Germany)

^f Medizinisch Genetisches Zentrum   (Germany)

^g UNIVERSITY HOSPITAL MAGDEBURG   (Germany)

^h TECHNICAL UNIVERSITY OF MUNICH   (Germany)

ⁱ Praxis Strobl Wildemann   (Germany)

^j UNIVERSITY OF FREIBURG   (Germany)

more..

Author keywords

ACVRL1; ALK1; ENG; Hereditary haemorrhagic telangiectasia; Liver

Indexed keywords

ACTIVIN RECEPTOR LIKE KINASE 1; ENDOGLIN; PROTEIN SERINE THREONINE KINASE;

ADULT; AGED; ARTERIOVENOUS MALFORMATION; ARTICLE; CLINICAL ARTICLE; COMPUTER ASSISTED TOMOGRAPHY; CONTROLLED STUDY; DIAGNOSTIC VALUE; DOPPLER ECHOGRAPHY; FEMALE; GERMANY; HUMAN; LIVER DISEASE; LIVER SCINTISCANNING; MALE; MUTATIONAL ANALYSIS; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROGNOSIS; RENDU OSLER WEBER DISEASE; SEQUENCE ANALYSIS;

ACTIVIN RECEPTORS, TYPE II; ADOLESCENT; ADULT; ANTIGENS, CD; ARTERIOVENOUS MALFORMATIONS; COHORT STUDIES; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC SCREENING; GERMANY; HUMANS; LIVER CIRCULATION; LIVER DISEASES; MALE; MIDDLE AGED; MUTATION; RECEPTORS, CELL SURFACE; TELANGIECTASIA, HEREDITARY HEMORRHAGIC;

EID: 47149094695     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2008.01029.x     Document Type: Article

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