Glanzmann thrombasthenia: Cooperation between sequence variants in cis during splice site selection

Journal of Clinical Investigation

Volumn 98, Issue 8, 1996, Pages 1745-1754

  Jin, Ying ^a   Dietz, Harry C ^a   Montgomery, Robert A ^a   Bell, William R ^a   McIntosh, Iain ^a   Coller, Barry ^b   Bray, Paul F ^a  

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b MOUNT SINAI HOSPITAL   (United States)

Author keywords

exon skipping; Glanzmann thrombasthenia; molecular genetics; platelet membrane glycoprotein complex IIb IIIa; RNA splicing

Indexed keywords

CIS ACTING ELEMENT; FIBRINOGEN RECEPTOR;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BINDING SITE; CASE REPORT; CHROMOSOME 17; EXON; FEMALE; GLANZMANN DISEASE; HOMOZYGOSITY; HUMAN; HUMAN CELL; NUCLEIC ACID BASE SUBSTITUTION; OPEN READING FRAME; PRIORITY JOURNAL;

EID: 0029910219     PISSN: 00219738     EISSN: None     Source Type: Journal    
DOI: 10.1172/JCI118973     Document Type: Article

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