Literature DB >> 7690341

Polymerase chain reaction detection of a novel human KIT (mast/stem cell growth factor receptor) gene polymorphism by single-strand conformation polymorphism analysis or by SmaI or BstNI cleavage.

R A Spritz1, S A Holmes.   

Abstract

We describe a common single-base polymorphism of the KIT gene that alters both SmaI and BstNI restriction sites, but is most easily detected as a single-strand conformation polymorphism (SSCP) using the polymerase chain reaction (PCR).

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Year:  1993        PMID: 7690341     DOI: 10.1007/bf00219695

Source DB:  PubMed          Journal:  Hum Genet        ISSN: 0340-6717            Impact factor:   4.132


  2 in total

1.  Organization and nucleotide sequence of the human KIT (mast/stem cell growth factor receptor) proto-oncogene.

Authors:  L B Giebel; K M Strunk; S A Holmes; R A Spritz
Journal:  Oncogene       Date:  1992-11       Impact factor: 9.867

2.  Mutations of the KIT (mast/stem cell growth factor receptor) proto-oncogene account for a continuous range of phenotypes in human piebaldism.

Authors:  R A Spritz; S A Holmes; R Ramesar; J Greenberg; D Curtis; P Beighton
Journal:  Am J Hum Genet       Date:  1992-11       Impact factor: 11.025

  2 in total
  2 in total

1.  Novel mutations and deletions of the KIT (steel factor receptor) gene in human piebaldism.

Authors:  K Ezoe; S A Holmes; L Ho; C P Bennett; J L Bolognia; L Brueton; J Burn; R Falabella; E M Gatto; N Ishii
Journal:  Am J Hum Genet       Date:  1995-01       Impact factor: 11.025

Review 2.  Molecular Diagnostics and Genetic Counseling in Primary Congenital Glaucoma.

Authors:  Muneeb Faiq; Kuldeep Mohanty; Rima Dada; Tanuj Dada
Journal:  J Curr Glaucoma Pract       Date:  2013-01-15
  2 in total

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