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Items: 8

1.

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion.

den Dunnen JT, Antonarakis SE.

Hum Mutat. 2000;15(1):7-12. Erratum in: Hum Mutat 2002 Nov;20(5):403.

PMID:
10612815
2.

PEX1 mutations in the Zellweger spectrum of the peroxisome biogenesis disorders.

Crane DI, Maxwell MA, Paton BC.

Hum Mutat. 2005 Sep;26(3):167-75. Review.

PMID:
16086329
3.

A nomenclature for X-linked amelogenesis imperfecta.

Hart PS, Hart TC, Simmer JP, Wright JT.

Arch Oral Biol. 2002 Apr;47(4):255-60. Review.

PMID:
11922868
4.

Nomenclature for antiviral-resistant human hepatitis B virus mutations in the polymerase region.

Stuyver LJ, Locarnini SA, Lok A, Richman DD, Carman WF, Dienstag JL, Schinazi RF.

Hepatology. 2001 Mar;33(3):751-7. Review.

PMID:
11230757
5.

Mutation nomenclature.

den Dunnen JT, Antonarakis SE.

Curr Protoc Hum Genet. 2003 Aug;Chapter 7:Unit 7.13. doi: 10.1002/0471142905.hg0713s37. Review.

PMID:
18428344
6.

Muddled genetic terms miss and mess the message.

Vihinen M.

Trends Genet. 2015 Aug;31(8):423-5. doi: 10.1016/j.tig.2015.05.008. Epub 2015 Jun 16. Review.

PMID:
26091961
7.

A unified nomenclature for peroxisome biogenesis factors.

Distel B, Erdmann R, Gould SJ, Blobel G, Crane DI, Cregg JM, Dodt G, Fujiki Y, Goodman JM, Just WW, Kiel JA, Kunau WH, Lazarow PB, Mannaerts GP, Moser HW, Osumi T, Rachubinski RA, Roscher A, Subramani S, Tabak HF, Tsukamoto T, Valle D, van der Klei I, van Veldhoven PP, Veenhuis M.

J Cell Biol. 1996 Oct;135(1):1-3. Review. No abstract available.

8.

[Nomenclature problems in glaucoma].

Prost ME.

Klin Oczna. 2000;102(3):217-9. Review. Polish.

PMID:
11126182

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