Paradoxical homozygous expression from heterozygotes and heterozygous expression from homozygotes as a consequence of transcriptional infidelity through a polyadenine tract in the AP3B1 gene responsible for canine cyclic neutropenia

Nucleic Acids Research

Volumn 32, Issue 21, 2004, Pages 6327-6333

  Benson, Kathleen F ^a   Person, Richard E ^a   Li, Feng Qian ^a,b   Williams, Kayleen ^a   Horwitz, Marshall ^a  

^a UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^b STONY BROOK UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE; BETA ADAPTIN; MESSENGER RNA;

ALLELE; AMINO ACID SEQUENCE; ANIMAL CELL; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CONTROLLED STUDY; DOG DISEASE; EXON; GENE INSERTION; GENE MUTATION; GENETIC TRANSCRIPTION; HETEROZYGOSITY; HETEROZYGOTE; HOMOZYGOSITY; HOMOZYGOTE; HUMAN; HUMAN CELL; IN VITRO STUDY; LEUKOCYTE COUNT; MOUSE; NEUTROPENIA; NONHUMAN; NORMAL VALUE; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PHAGOCYTE; PRIORITY JOURNAL; PROTEIN DEGRADATION; PROTEIN EXPRESSION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SEQUENCE ALIGNMENT; WILD TYPE;

ADAPTOR PROTEIN COMPLEX 3; FRAMESHIFT MUTATION; GENES, REPORTER; HETEROZYGOTE; HOMOZYGOTE; NEUTROPENIA; POLY A; RNA, MESSENGER; TRANSCRIPTION, GENETIC;

EID: 13444304378     PISSN: 03051048     EISSN: None     Source Type: Journal    
DOI: 10.1093/nar/gkh974     Document Type: Article

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