Browse By Publication: Human Mutation

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Number of items: 5.

Graf, Justin T., Hodgson, Richard, & Van Daal, Angela (2005) Single Nucleotide Polymorphisms in the MATP Gene Are Associated with Normal Human Pigmentation Variation. Human Mutation, 25(3), pp. 278-284.
Number of citations in Scopus 154
Number of citations in Web of Science® 133

Graf, Justin T., Voisey, Joanne, Hughes, Ian P., & van Daal, Angela M. (2007) Promoter polymorphisms in the MATP (SLC45A2) gene are associated with normal human skin color variation. Human Mutation, 28(7), pp. 710-717.
Number of citations in Scopus 42
Number of citations in Web of Science® 33

Grigg, R., Lea, R., Sullivan, A. A., Curtain , R., MacMillan, J., & Griffiths, Lyn R. (2000) Identification of a novel mutation C144F in the Notch3 gene in an Australian CADASIL pedigree. Human Mutation, 16(5), pp. 449-450.
Number of citations in Scopus 5

McInerney-Leo, Aideen M., Harris, Jessica E., Gattas, Michael, Peach, Elizabeth E., Sinnott, Stephen, Dudding-Byth, Tracy, et al. (2016) Fryns syndrome associated with recessive mutations in PIGN in two separate families. Human Mutation, 37(7), pp. 695-702.

Pollock, Pamela M., Spurr, Nigel, Bishop, Tim, Newton-Bishop, Julia, Gruis, Nelleke, van der Velden, Pieter A., et al. (1998) Haplotype analysis of two recurrent CDKN2A mutations in 10 melanoma families : evidence for common founders and independent mutations. Human Mutation, 11(6), pp. 424-431.
Number of citations in Scopus 53
Number of citations in Web of Science® 50

This list was generated on Sun Jul 16 13:47:42 2017 AEST.