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Characterization of Mouse Pmel 17 Gene and Silver Locus

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dc.contributor.authorKwon, Byoung S.-
dc.contributor.authorKim, Kack K.-
dc.contributor.authorRuth Halaban-
dc.contributor.authorRichard T. Pickard-
dc.date.accessioned2011-10-18T07:46:58Z-
dc.date.available2011-10-18T07:46:58Z-
dc.date.issued1994-12-
dc.identifier.citationPigment Cell Res 7:394-397en
dc.identifier.issn1755-1471-
dc.identifier.urihttps://hdl.handle.net/10371/74290-
dc.description.abstractPmel 17 cDNA clones, isolated from wild-type and si/si murine melanocytes, were sequenced and compared. A single nucleotide (A) insertion was found in the putative cytoplasmic tail of the si/si Pmel 17 cDNA clone. This insertion is predicted to alter the last 24 amino acids at the C-terminus and to extend the Pmel 17 protein by 12 residues. The mutation was confirmed by the sequence of the PCR-amplified genomic region including the mutation site. Silver Pmel 17 was not recognized by antibodies directed toward the C-terminal amino acids of wild-type Pmel 17, indicating a defect in this region. These results indicate that silver Pmel 17 protein has a major defect at the carboxyl terminus.en
dc.description.sponsorshipThis work was supported by grants from the National Institutes of Health R01 AR-4028 (BK) and ROl-AR39848 (RH) and the March of Dimes Birth Defects Foundation (BK).en
dc.language.isoenen
dc.publisherBlackwell Publishingen
dc.subjectSilver locusen
dc.subjectInsertional mutationen
dc.subjectMurine Pmel 17en
dc.titleCharacterization of Mouse Pmel 17 Gene and Silver Locusen
dc.typeArticleen
dc.contributor.AlternativeAuthor김각균-
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College of Dentistry/School of Dentistry (치과대학/치의학대학원)Dept. of Dentistry (치의학과)Journal Papers (저널논문_치의학과)
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