The ancestral gene for transcribed, low-copy repeats in the Prader-Willi/Angelman region encodes a large protein implicated in protein trafficking, which is deficient in mice with neuromuscular and spermiogenic abnormalities

Human Molecular Genetics

Volumn 8, Issue 3, 1999, Pages 533-542

  Ji, Yonggang ^a   Walkowicz, Mitchell J ^b,d   Buiting, Karin ^c   Johnson, Dabney K ^b   Tarvin, Rocio E ^a   Rinchik, Eugene M ^b   Horsthemke, Bernhard ^c   Stubbs, Lisa ^b,e   Nicholls, Robert D ^a  

^a CASE WESTERN RESERVE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b OAK RIDGE NATIONAL LABORATORY   (United States)

^c UNIVERSITY HOSPITAL ESSEN   (Germany)

^d NATIONAL CANCER INSTITUTE   (United States)

^e LAWRENCE LIVERMORE NATIONAL LABORATORY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ETHYLNITROSOUREA; GUANINE NUCLEOTIDE EXCHANGE FACTOR; PROTEIN; REPETITIVE DNA;

ACROSOME; ALLELE; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; CHROMOSOME 15Q; CHROMOSOME 7; DEATH; DELETION MUTANT; DEVELOPMENTAL DISORDER; EXON; GENE EXPRESSION; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENOME; HAPPY PUPPET SYNDROME; MOUSE; NEUROMUSCULAR DISEASE; NUCLEIC ACID ANALYSIS; NUCLEOTIDE SEQUENCE; PRADER WILLI SYNDROME; PRIORITY JOURNAL; PROTEIN METABOLISM; PROTEIN TRANSPORT; RNA TRANSLATION; SPERMATOGENESIS; SYNAPSE VESICLE;

ANIMALIA;

EID: 0033016617     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/8.3.533     Document Type: Article

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