Literature DB >> 8051921

Single-strand conformation polymorphism analysis of point mutation in a tyrosinase-negative oculocutaneous albinism.

K C Park1, K H Kim, Y S Lee, B S Kwon.   

Abstract

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Year:  1994        PMID： 8051921     DOI： 10.1007/bf00735414

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  7 in total

1.  Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction.

Authors:  M Orita; Y Suzuki; T Sekiya; K Hayashi
Journal:  Genomics       Date:  1989-11       Impact factor: 5.736

2.  Isolation and sequence of a cDNA clone for human tyrosinase that maps at the mouse c-albino locus.

Authors:  B S Kwon; A K Haq; S H Pomerantz; R Halaban
Journal:  Proc Natl Acad Sci U S A       Date:  1987-11       Impact factor: 11.205

3.  Organization and nucleotide sequences of the human tyrosinase gene and a truncated tyrosinase-related segment.

Authors:  L B Giebel; K M Strunk; R A Spritz
Journal:  Genomics       Date:  1991-03       Impact factor: 5.736

Review 4.  Albinism.

Authors:  R A King; C G Summers
Journal:  Dermatol Clin       Date:  1988-04       Impact factor: 3.478

5.  Molecular analyses of a tyrosinase-negative albino family.

Authors:  K C Park; C D Chintamaneni; R Halaban; C J Witkop; B S Kwon
Journal:  Am J Hum Genet       Date:  1993-02       Impact factor: 11.025

6.  Non-random distribution of missense mutations within the human tyrosinase gene in type I (tyrosinase-related) oculocutaneous albinism.

Authors:  R A King; M M Mentink; W S Oetting
Journal:  Mol Biol Med       Date:  1991-02

7.  DNA sequencing with chain-terminating inhibitors.

Authors:  F Sanger; S Nicklen; A R Coulson
Journal:  Proc Natl Acad Sci U S A       Date:  1977-12       Impact factor: 11.205
  7 in total

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