Localisation of pseudohypoaldosteronism genes to chromosome 16p12.2-13.11 and 12p13.1-pter by homozygosity mapping (Q28291215)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8824886%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

title

Localisation of pseudohypoaldosteronism genes to chromosome 16p12.2-13.11 and 12p13.1-pter by homozygosity mapping (English)

1 reference

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19 October 2019

1 reference

2

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19 October 2019

3

A Hanukoglu

2 references

ORCID Public Data File 2021

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19 October 2019

5

I Hanukoglu

1 reference

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19 October 2019

author name string

S S Strautnieks

1

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19 October 2019

M J Dillon

4

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19 October 2019

U Kuhnle

6

1 reference

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19 October 2019

J Seckl

7

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19 October 2019

R M Gardiner

8

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19 October 2019

E Chung

9

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19 October 2019

language of work or name

English

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publication date

1 February 1996

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19 October 2019

published in

Human Molecular Genetics

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19 October 2019

volume

5

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19 October 2019

issue

2

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19 October 2019

page(s)

293-299

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A salt wasting syndrome in infancy

19 October 2019

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Hormone-nuclear receptor interactions in health and disease. Mineralocorticoid resistance

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Type I pseudohypoaldosteronism includes two clinically and genetically distinct entities with either renal or multiple target organ defects

21 January 2018

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Cloning of human mineralocorticoid receptor complementary DNA: structural and functional kinship with the glucocorticoid receptor

21 January 2018

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No apparent mineralocorticoid receptor defect in a series of sporadic cases of pseudohypoaldosteronism.

21 January 2018

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Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children

21 January 2018

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Localization of Friedreich ataxia phenotype with selective vitamin E deficiency to chromosome 8q by homozygosity mapping

21 January 2018

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Genome screening by searching for shared segments: mapping a gene for benign recurrent intrahepatic cholestasis

21 January 2018

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SCNN1, an epithelial cell sodium channel gene in the conserved linkage group on mouse chromosome 6 and human chromosome 12

21 January 2018

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Cloning, chromosomal localization, and physical linkage of the beta and gamma subunits (SCNN1B and SCNN1G) of the human epithelial amiloride-sensitive sodium channel

21 January 2018

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Liddle's syndrome: heritable human hypertension caused by mutations in the beta subunit of the epithelial sodium channel

21 January 2018

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Hypertension caused by a truncated epithelial sodium channel gamma subunit: genetic heterogeneity of Liddle syndrome

21 January 2018

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Deletion of steroid 5 alpha-reductase 2 gene in male pseudohermaphroditism

21 January 2018

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Albright's hereditary osteodystrophy

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21 January 2018

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The 1993-94 Généthon human genetic linkage map

21 January 2018

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Isolation and regional assignment of human chromosome 12p cDNAs

21 January 2018

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The CEPH consortium linkage map of human chromosome 16

21 January 2018

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