Endoglin gene mutations and polymorphisms in Italian patients with hereditary haemorrhagic telangiectasia

Clinical Genetics

Volumn 63, Issue 6, 2003, Pages 536-540

  Lastella, P ^a   Sabba C ^a   Lenato, G M ^a   Resta, N ^a   Lattanzi, W ^a   Gallitelli, M ^a   Cirulli, A ^a   Guanti, Ginevra ^a  

^a UNIVERSITY OF BARI   (Italy)

Author keywords

Endoglin; Germline mutation; Hereditary haemorrhagic telangiectasia; HHT; Polymorphisms

Indexed keywords

ENDOGLIN; GENOMIC DNA; ISOLEUCINE; THREONINE;

ALLELE; AMINO ACID SUBSTITUTION; ARTERIOVENOUS MALFORMATION; ARTICLE; CASE REPORT; CONTROLLED STUDY; EXON; FEMALE; GENE DELETION; GENE IDENTIFICATION; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; GENETIC CONSERVATION; GENETIC POLYMORPHISM; GENETIC SCREENING; GENETIC VARIABILITY; HAPLOTYPE; HETERODUPLEX ANALYSIS; HUMAN; ITALY; LINKAGE ANALYSIS; MALE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; RENDU OSLER WEBER DISEASE; SINGLE STRAND CONFORMATION POLYMORPHISM;

ANTIGENS, CD; FEMALE; HUMANS; ITALY; MALE; MUTATION; PEDIGREE; POLYMORPHISM, GENETIC; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RECEPTORS, CELL SURFACE; SEQUENCE DELETION; TELANGIECTASIA, HEREDITARY HEMORRHAGIC; VASCULAR CELL ADHESION MOLECULE-1;

EID: 0043133577     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1399-0004.2003.00081.x     Document Type: Article

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