(Q35882147)

10 August 2017

Genetic homogeneity of autoimmune polyglandular disease type I. (English)

1 reference

10 August 2017

Björses P

1

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10 August 2017

Aaltonen J

2

1 reference

10 August 2017

Vikman A

3

1 reference

10 August 2017

Perheentupa J

4

1 reference

10 August 2017

Ben-Zion G

5

1 reference

10 August 2017

Chiumello G

6

1 reference

10 August 2017

Dahl N

7

1 reference

10 August 2017

Heideman P

8

1 reference

10 August 2017

Hoorweg-Nijman JJ

9

1 reference

10 August 2017

Mathivon L

10

1 reference

10 August 2017

Mullis PE

11

1 reference

10 August 2017

Pohl M

12

1 reference

10 August 2017

Ritzen M

13

1 reference

10 August 2017

Romeo G

14

1 reference

10 August 2017

Shapiro MS

15

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10 August 2017

Smith CS

16

1 reference

10 August 2017

Solyom J

17

1 reference

10 August 2017

Zlotogora J

18

1 reference

10 August 2017

Peltonen L

19

1 reference

10 August 2017

language of work or name

English

0 references

publication date

1 October 1996

1 reference

American Journal of Human Genetics

10 August 2017

1 reference

10 August 2017

59

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10 August 2017

4

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10 August 2017

879-886

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The age of human mutation: genealogical and linkage disequilibrium analysis of the CLN5 mutation in the Finnish population.

10 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914815

Integration of gene maps: chromosome 21.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914815

Localization of the EPM1 gene for progressive myoclonus epilepsy on chromosome 21: linkage disequilibrium allows high resolution mapping

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914815

An autosomal locus causing autoimmune disease: autoimmune polyglandular disease type I assigned to chromosome 21

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914815

Defined chromosomal assignment of CLN5 demonstrates that at least four genetic loci are involved in the pathogenesis of human ceroid lipofuscinoses

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914815

A powerful likelihood method for the analysis of linkage disequilibrium between trait loci and one or more polymorphic marker loci

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914815

Random search for shared chromosomal regions in four affected individuals: the assignment of a new hereditary ataxia locus

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914815

A search for genes from the dark band regions of human chromosome 21.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914815

Strategies for multilocus linkage analysis in humans

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914815

[21] Specific synthesis of DNA in vitro via a polymerase-catalyzed chain reaction

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914815

Clinical variation of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in a series of 68 patients.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914815

Spectrum of mutations in aspartylglucosaminuria

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914815

Polyglandular autoimmune syndrome type I among Iranian Jews

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914815

The expression of autoimmune polyglandular disease type I appears associated with several HLA-A antigens but not with HLA-DR

11 July 2018

1 reference

12 December 2020

Infantile neuronal ceroid lipofuscinosis (CLN1): linkage disequilibrium in the Finnish population and evidence that variant late infantile form (variant CLN2) represents a nonallelic locus

1 reference

12 December 2020

Autoimmune polyendocrinopathy--candidosis--ectodermal dystrophy (APECED): autosomal recessive inheritance

1 reference

12 December 2020

Specific synthesis of DNA in vitro via a polymerase-catalyzed chain reaction

1 reference

12 December 2020

Identifiers

1 reference

10 August 2017

PubMed publication ID

8808604

1 reference