Exon skipping caused by an intronic insertion of a young Alu Yb9 element leads to severe hemophilia A

Human Genetics

Volumn 113, Issue 4, 2003, Pages 348-352

  Ganguly, Arupa ^a   Dunbar, Tanya ^a   Chen, Peiqin ^a   Godmilow, Lynn ^a   Ganguly, Tapan ^a  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BLOOD CLOTTING FACTOR 8;

ALU SEQUENCE; ALU YB9 SEQUENCE; ARTICLE; CASE REPORT; DNA TRANSPOSITION; EXON; FEMALE; GENE DISRUPTION; GENE EXPRESSION; GENE INSERTION; GENETIC ANALYSIS; HEMOPHILIA A; HUMAN; INTRON; MALE; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL;

ALTERNATIVE SPLICING; ALU ELEMENTS; BASE SEQUENCE; CHILD; EXONS; HEMOPHILIA A; HUMANS; INTRONS; MALE; MOLECULAR SEQUENCE DATA; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS, RNA;

INSERTION SEQUENCES;

EID: 0042827457     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-003-0986-5     Document Type: Article

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