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  Robert Resta: Re: DIAG (2 messages)  

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To: Multiple recipients of list HUM-MOLGEN <HUM-MOLGEN@NIC.SURFNET.NL>
Subject: Re: DIAG (2 messages)
From: Robert Resta <bc928@scn.org>
Date: Tue, 2 Apr 1996 12:16:40 -0800

The following requests have been submitted to the DIAG section of


>>Dear All:
>>I am doing research on the molecular basis of familial monogenic
>>hypercholesterolemia(FH)(LDL-receptor defect). I am looking for valid
>>updated protocol for finding the homo or heterozygous FH patients among
>>the patients with the atherosclerosis or cardiovascular disease
>>Is there any questionary list or the follow up strategy of biochemical
>>tests and their evaluations to confirm that the biochemical findings of
>>lipid measurements indicates that the patient is homo or
>>heterozygous FH before embarking on DNA analysis?
>>If anyone knows  any information source on the subject of selective
>>criteria, could you please send me information my below adress.
>>Thank you very much to everybody in advance.
>>Yours Sincerely
>>Selim Uzunoglu
>>*Dr. Selim UZUNOGLU (Ms.C;Ph.D in Medical Biology)*
>>*Celal Bayar University Faculty of Medicine       *
>>*Medical Biology and Genetics Dept., Manisa-TURKEY*
>>*W.Phone:+90 (236) 237 2928                       *
>>*            (236) 237 2886 Ext:141               *
>>*W.Fax  :+90 (236) 237 2442                       *
>>*H.Phone:+90 (232) 388 9377                       *
>>*            (232) 388 0208                       *
>>*H. Fax: +90 (232) 374 7754                       *
>>*mailto:selim@cbu.bayar.edu.tr                    *
>>*URL http://www.bayar.edu.tr/~selim               *
>From owner-ed-molgen@HEARN.NIC.SURFNET.NL  Mon Mar 25 18:46:29 1996
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Date:         Tue, 26 Mar 1996 12:18:00 -0800
Reply-To: Human Molecular Genetics Editors <ED-MOLGEN@HEARN.NIC.SURFNET.NL>
Sender: Human Molecular Genetics Editors <ED-MOLGEN@HEARN.NIC.SURFNET.NL>
From: "Suthers, Graeme" <suthersg@WCH.SA.GOV.AU>
Subject:      CALL: X-linked nystagmus
X-To:         HUM-MOLGEN Mailing List <hum-molgen@nic.surfnet.nl>
To: Multiple recipients of list ED-MOLGEN <ED-MOLGEN@HEARN.NIC.SURFNET.NL>

Dear Colleague,

I have recently seen a family with X-linked congenital nystagmus and colour
blindness (OMIM 310700). The locus on the X chromosome for this condition
has not been mapped. This family is too small for an independent linkage
study but would be suitable for inclusion in a larger study. Is anyone
 interested in such a study? We could supply either DNA or lab resources on
a collaborative basis.

Yours sincerely,

Graeme Suthers.
Dr Graeme Suthers
SA Clinical Genetics Service
Centre for Medical Genetics
Women's & Children's Hospital
North Adelaide SA 5006

tel  (08) 204 7375 (International prefix -61-8-)
fax  (08) 204 6088 (International prefix -61-8-)
email      suthersg@wch.sa.gov.au (Using MSmail)
>> Please note new email address <<

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