5'UTR mutations of ENG cause hereditary hemorrhagic telangiectasia

Orphanet Journal of Rare Diseases

Volumn 6, Issue 1, 2011, Pages

  Damjanovich, Kristy ^a   Langa, Carmen ^b   Blanco, Francisco J ^b   McDonald, Jamie ^a,c   Botella, Luisa M ^b   Bernabeu, Carmelo ^b   Wooderchak Donahue, Whitney ^a   Stevenson, David A ^c   Bayrak Toydemir, Pinar ^a,c  

^a ARUP INSTITUTE FOR CLINICAL AND EXPERIMENTAL PATHOLOGY   (United States)

^b CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^c UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

Author keywords

5'UTR region; c. 127C > T; c. 9G > A; ENG; homozygous

Indexed keywords

ACTIVIN RECEPTOR LIKE KINASE 1; ENDOGLIN; CELL SURFACE RECEPTOR; ENG PROTEIN, HUMAN; LEUKOCYTE ANTIGEN;

5' UNTRANSLATED REGION; ARTICLE; CONTROLLED STUDY; GENE MUTATION; GENE SEQUENCE; GENETIC LINKAGE; HUMAN; IN VITRO STUDY; MAJOR CLINICAL STUDY; NUCLEOTIDE SEQUENCE; RENDU OSLER WEBER DISEASE; SIBLING; TRANSLATION INITIATION; ADOLESCENT; ADULT; AGED; ANIMAL; CELL STRAIN COS1; CHEMISTRY; CHILD; DNA SEQUENCE; FEMALE; GENETIC TRANSFECTION; GENETICS; MALE; MIDDLE AGED; MOLECULAR GENETICS; MUTATION; PRESCHOOL CHILD;

5' UNTRANSLATED REGIONS; ADOLESCENT; ADULT; AGED; ANIMALS; ANTIGENS, CD; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; COS CELLS; FEMALE; HUMANS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; RECEPTORS, CELL SURFACE; SEQUENCE ANALYSIS, DNA; TELANGIECTASIA, HEREDITARY HEMORRHAGIC; TRANSFECTION;

EID: 84055178121     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-6-85     Document Type: Article

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