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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.

Giwercman, Yvonne LU ; Nordenskjöld, Agneta; Ritzén, E Martin; Nilsson, Karl-Olof LU ; Ivarsson, Sten LU ; Grandell, Ulla and Wedell, Anna (2002) In Journal of Clinical Endocrinology and Metabolism 87(6). p.2623-2628
Please use this url to cite or link to this publication:
author
organization
publishing date
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
The Endocrine Society
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
2007-07-20 12:11:43
date last changed
2017-01-01 07:02:44
@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},
  keyword      = {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    = {The Endocrine Society},
  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.},
  volume       = {87},
  year         = {2002},
}