An androgen receptor gene mutation (E653K) in a family with congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency as well as in partial androgen insensitivity.
(2002) In Journal of Clinical Endocrinology and Metabolism 87(6). p.2623-2628
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/115257
- author
- Giwercman, Yvonne LU ; Nordenskjöld, Agneta ; Ritzén, E Martin ; Nilsson, Karl-Olof LU ; Ivarsson, Sten LU ; Grandell, Ulla and Wedell, Anna
- organization
- publishing date
- 2002
- type
- Contribution to journal
- publication status
- published
- subject
- keywords
- Congenital: genetics, Androgen-Insensitivity Syndrome: genetics, Preschool, Child, Female, Human, Non-U.S. Gov't, Support, Androgen: metabolism, Receptors, Androgen: genetics, Mutation, Pedigree, Adult, Adrenal Hyperplasia, Congenital: etiology, Inborn Errors: complications, Metabolism, Male
- in
- Journal of Clinical Endocrinology and Metabolism
- volume
- 87
- issue
- 6
- pages
- 2623 - 2628
- publisher
- Oxford University Press
- external identifiers
-
- pmid:12050225
- wos:000176241000032
- scopus:0036075282
- ISSN
- 1945-7197
- language
- English
- LU publication?
- yes
- id
- 75afccd4-c40f-419b-9b9a-aa6e67f6e3ec (old id 115257)
- alternative location
- http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=12050225&dopt=Abstract
- http://jcem.endojournals.org/cgi/content/full/87/6/2623
- date added to LUP
- 2016-04-01 16:20:51
- date last changed
- 2022-03-30 07:14:59
@article{75afccd4-c40f-419b-9b9a-aa6e67f6e3ec,
author = {{Giwercman, Yvonne and Nordenskjöld, Agneta and Ritzén, E Martin and Nilsson, Karl-Olof and Ivarsson, Sten and Grandell, Ulla and Wedell, Anna}},
issn = {{1945-7197}},
keywords = {{Congenital: genetics; Androgen-Insensitivity Syndrome: genetics; Preschool; Child; Female; Human; Non-U.S. Gov't; Support; Androgen: metabolism; Receptors; Androgen: genetics; Mutation; Pedigree; Adult; Adrenal Hyperplasia; Congenital: etiology; Inborn Errors: complications; Metabolism; Male}},
language = {{eng}},
number = {{6}},
pages = {{2623--2628}},
publisher = {{Oxford University Press}},
series = {{Journal of Clinical Endocrinology and Metabolism}},
title = {{An androgen receptor gene mutation (E653K) in a family with congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency as well as in partial androgen insensitivity.}},
url = {{http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=12050225&dopt=Abstract}},
volume = {{87}},
year = {{2002}},
}