Hereditary hemorrhagic telangiectasia: Two distinct ENG deletions in one family

Clinical Genetics

Volumn 78, Issue 5, 2010, Pages 484-489

  Wooderchak, W ^a   Gedge, F ^a   McDonald, M ^a   Krautscheid, P ^a   Wang, X ^b   Malkiewicz, J ^b   Bukjiok, C J ^a   Lewis, T ^a   Bayrak Toydemir, P ^a,c  

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

^b HENRY FORD HEALTH SYSTEM   (United States)

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

Author keywords

ACVRL1; Deletion; ENG; HHT

Indexed keywords

ACTIVIN RECEPTOR LIKE KINASE 1; COMPLEMENTARY DNA; ENDOGLIN; GENOMIC DNA; MESSENGER RNA; OLIGONUCLEOTIDE;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHROMOSOME; COMPARATIVE GENOMIC HYBRIDIZATION; DIAGNOSTIC ERROR; DNA EXTRACTION; EXON; FAMILY HISTORY; FEMALE; GENE DELETION; GENE DUPLICATION; GENE MUTATION; GENE REARRANGEMENT; GENE SEGREGATION; GENOME ANALYSIS; HUMAN; LINKAGE ANALYSIS; MAJOR CLINICAL STUDY; MARKER GENE; MOTHER; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; PEDIGREE ANALYSIS; PRIORITY JOURNAL; RENDU OSLER WEBER DISEASE; RNA SEQUENCE;

ACTIVIN RECEPTORS, TYPE II; ADULT; ANTIGENS, CD; DISEASES IN TWINS; FEMALE; HUMANS; MALE; PEDIGREE; RECEPTORS, CELL SURFACE; SEQUENCE DELETION; TELANGIECTASIA, HEREDITARY HEMORRHAGIC;

EID: 78149253586     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2010.01418.x     Document Type: Article

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