Talk:Neurofibromatosis type I

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	To-do list for Neurofibromatosis type I:	edit - history - watch - refresh
~~Strike through when completed~~ clarify NF1 / NF-1 terminology and usage relating to neurofibromin disambiguate neurofibromin (as NF1) when neurofibromin article exists link OMIM 162200 in infobox format references for footnotes style external links simplify medical terminology

To-do list for Neurofibromatosis type I:

edit - history - watch - refresh

~~Strike through when completed~~

clarify NF1 / NF-1 terminology and usage relating to neurofibromin
disambiguate neurofibromin (as NF1) when neurofibromin article exists
link OMIM 162200 in infobox
format references for footnotes style
external links
simplify medical terminology

[edit] Incidence

I've read the incidence rate in UK is 1/2500, so it's possible who ever wrote that number is from the UK.

Does anyone have a citation? I see 1/2500 births on wikipedia, but have encountered estimates between 1/3000 and 1/4000 births on NF websites and in printed handbooks. I can expect a range of values (high uncertainty), but there's too large a differenece between 1/2500 and 1/4000, no?

Above posted by User:128.151.253.249 19:36, 18 January 2006

I agree - 1/3000-1/3500 is the accepted figure as far as I know (as an NF1 researcher).

This is also listed as the rate on the Neurofibromatosis page.

Above posted by User:Aarons@chw.edu.au 09:33, 8 May 2006

[edit] Disambiguation & protein

"NF1" needs a disambiguation page as it is an abbreviation for both the disease and a causitive protein. Not sure how to construct such a page myself . . . Niels Olson 04:00, 29 August 2006 (UTC)

I've put an {{otheruses}} template linking to NF1 (protein) as listed in OMIM 162200, rather than creating a disambiguation page, as I don't think there are many other uses of NF1, but if there are, a disambig page can easily be created. --apers0n 05:54, 29 August 2006 (UTC)

I'm not a big fan of creating links to unmade pages. I'd say start making a page yourself, then add the link.

The protein encoded for by the NF1 gene is called "neurofibromin", not "NF1 (protein). Any page on the protein should be named neurofibromin.

Neurofibromin is a protein that has proposed to have multiple functions, but it is likely that its Ras-GTPase activity is the most functionally important. A family possessing a point mutation that specifically ablates Ras-GTPase function demostrate all the symptoms of NF1. Dr Aaron 05:59, 29 August 2006 (UTC)