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Mutation analyses of North American APS-1 patients
scientific article
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instance of
scholarly article
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title
Mutation analyses of North American APS-1 patients
(English)
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main subject
patient
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author name string
M Heino
series ordinal
1
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H S Scott
series ordinal
2
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Q Chen
series ordinal
3
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P Peterson
series ordinal
4
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U Mäebpää
series ordinal
5
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M P Papasavvas
series ordinal
6
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L Mittaz
series ordinal
7
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C Barras
series ordinal
8
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C Rossier
series ordinal
9
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G P Chrousos
series ordinal
10
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C A Stratakis
series ordinal
11
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K Nagamine
series ordinal
12
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J Kudoh
series ordinal
13
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N Shimizu
series ordinal
14
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N Maclaren
series ordinal
15
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S E Antonarakis
series ordinal
16
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K Krohn
series ordinal
17
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language of work or name
English
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publication date
1999
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published in
Human Mutation
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volume
13
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issue
1
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page(s)
69-74
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cites work
An autosomal locus causing autoimmune disease: autoimmune polyglandular disease type I assigned to chromosome 21
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21 January 2018
Clinical variation of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in a series of 68 patients.
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retrieved
21 January 2018
An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains
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retrieved
21 January 2018
The APECED polyglandular autoimmune syndrome protein, AIRE-1, contains the SAND domain and is probably a transcription factor
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21 January 2018
A signature motif in transcriptional co-activators mediates binding to nuclear receptors
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21 January 2018
Retroviruses, apoptosis and autogenes
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21 January 2018
Positional cloning of the APECED gene
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21 January 2018
Mutation in GLI3 in postaxial polydactyly type A
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21 January 2018
Common mutations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients of different origins
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21 January 2018
A common mutation for mucopolysaccharidosis type I associated with a severe Hurler syndrome phenotype.
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21 January 2018
Recurrent mutations in haemophilia A give evidence for CpG mutation hotspots
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21 January 2018
Polyglandular autoimmune syndrome type I among Iranian Jews
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21 January 2018
Phenotypic diversity, allelic series and modifier genes
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retrieved
21 January 2018
Identifiers
DOI
10.1002/(SICI)1098-1004(1999)13:1<69::AID-HUMU8>3.0.CO;2-6
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PubMed publication ID
9888391
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