Identification of 13 new mutations in the ACVRL1 gene in a group of 52 unselected Italian patients affected by hereditary haemorrhagic telangiectasia.

Journal of medical genetics

Volumn 39, Issue 7, 2002, Pages

  Olivieri, C ^a   Mira, E ^a   Delu G ^a   Pagella, F ^a   Zambelli, A ^a   Malvezzi, L ^a   Buscarini, E ^a   Danesino, C ^a  

^a UNIVERSITY OF PAVIA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ACTIVIN RECEPTOR 1; ACTIVIN RECEPTOR 2; ACVRL1 PROTEIN, HUMAN; ACVRL1 PROTEIN, MOUSE; DROSOPHILA PROTEIN; XENOPUS PROTEIN;

AMINO ACID SEQUENCE; ANIMAL; ARTICLE; CHICKEN; COMPARATIVE STUDY; DROSOPHILA MELANOGASTER; FEMALE; GENETICS; HUMAN; ITALY; MALE; MOLECULAR GENETICS; MOUSE; MUTATION; NUCLEOTIDE SEQUENCE; RAT; RENDU OSLER WEBER DISEASE; SEQUENCE ALIGNMENT; XENOPUS LAEVIS;

ACTIVIN RECEPTORS, TYPE I; ACTIVIN RECEPTORS, TYPE II; AMINO ACID SEQUENCE; ANIMALS; CHICKENS; DNA MUTATIONAL ANALYSIS; DROSOPHILA MELANOGASTER; DROSOPHILA PROTEINS; FEMALE; HUMANS; ITALY; MALE; MICE; MOLECULAR SEQUENCE DATA; MUTATION; RATS; SEQUENCE ALIGNMENT; TELANGIECTASIA, HEREDITARY HEMORRHAGIC; XENOPUS LAEVIS; XENOPUS PROTEINS;

MLCS; MLOWN;

EID: 0036634625     PISSN: None     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.39.7.e39     Document Type: Article

References (0)