An L1 element intronic insertion in the black-eyed white (Mitf(mi-bw)) gene: The loss of a single Mitf isoform responsible for the pigmentary defect and inner ear deafness

Human Molecular Genetics

Volumn 8, Issue 8, 1999, Pages 1431-1441

  Yajima, Ichiro ^a   Sato, Shigeru ^a,d   Kimura, Takaharu ^a   Yasumoto, Ken Ichi ^b   Shibahara, Shigeki ^b   Goding, Colin R ^c   Yamamoto, Hiroaki ^a  

^a TOHOKU UNIVERSITY   (Japan)

^b TOHOKU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^c MARIE CURIE RESEARCH INSTITUTE   (United Kingdom)

^d JICHI MEDICAL UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

MESSENGER RNA; TRANSCRIPTION FACTOR;

ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CELL MATURATION; CELL POPULATION; CONTROLLED STUDY; DNA DETERMINATION; GENE INSERTION; GENE MUTATION; INTRON; MELANOCYTE; MICROPHTHALMIA; MOUSE; NEURAL CREST CELL; NONHUMAN; NUCLEOTIDE SEQUENCE; PERCEPTION DEAFNESS; PIGMENT CELL; PIGMENT EPITHELIUM; PRIORITY JOURNAL; RETROPOSON; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA SPLICING; WAARDENBURG SYNDROME;

ALLELES; ANIMALS; BASE SEQUENCE; DNA-BINDING PROTEINS; FEMALE; GENE EXPRESSION REGULATION; HEARING LOSS, SENSORINEURAL; HUMANS; INTRONS; MALE; MICE; MICE, INBRED C3H; MICE, INBRED C57BL; MICE, MUTANT STRAINS; MICROPHTHALMIA-ASSOCIATED TRANSCRIPTION FACTOR; MOLECULAR SEQUENCE DATA; MUTAGENESIS, INSERTIONAL; PHENOTYPE; PIGMENTATION DISORDERS; PROTEIN ISOFORMS; RETROELEMENTS; SKIN PIGMENTATION; TRANSCRIPTION FACTORS; VARIATION (GENETICS); WAARDENBURG'S SYNDROME;

ANIMALIA;

EID: 0032815964     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/8.8.1431     Document Type: Article

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