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Mutations in PTF1A cause pancreatic and cerebellar agenesis.

Abstract:

Individuals with permanent neonatal diabetes mellitus usually present within the first three months of life and require insulin treatment. We recently identified a locus on chromosome 10p13-p12.1 involved in permanent neonatal diabetes mellitus associated with pancreatic and cerebellar agenesis in a genome-wide linkage search of a consanguineous Pakistani family. Here we report the further linkage analysis of this family and a second family of Northern European descent segregating an identica...

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Publisher copy:
10.1038/ng1475

Authors


Sellick, GS More by this author
Barker, KT More by this author
Stolte-Dijkstra, I More by this author
Fleischmann, C More by this author
Coleman, RJ More by this author
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Journal:
Nature genetics
Volume:
36
Issue:
12
Pages:
1301-1305
Publication date:
2004-12-05
DOI:
EISSN:
1546-1718
ISSN:
1061-4036
URN:
uuid:8ed37d47-44e8-4356-bf0c-564f0219a84c
Source identifiers:
10032
Local pid:
pubs:10032

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