X-linked adrenal hypoplasia in a large Greenlandic family. Detection of a missense mutation (N440I) in the DAX-1 gene; implication for genetic counselling and carrier diagnosis

Bibliographic Details
Published in:Human Genetics
Main Authors: Schwartz, M., Blichfeldt, Susanne, Müller, Jørn
Format: Article in Journal/Newspaper
Language:unknown
Published: Springer Science and Business Media LLC 1996
Subjects:
Genetics(clinical)
Genetics
greenlandic
Online Access:http://dx.doi.org/10.1007/s004390050316
http://link.springer.com/content/pdf/10.1007/s004390050316.pdf
http://link.springer.com/article/10.1007/s004390050316/fulltext.html
http://link.springer.com/content/pdf/10.1007/s004390050316
id crspringernat:10.1007/s004390050316
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spelling crspringernat:10.1007/s004390050316 2023-05-15T16:31:07+02:00 X-linked adrenal hypoplasia in a large Greenlandic family. Detection of a missense mutation (N440I) in the DAX-1 gene; implication for genetic counselling and carrier diagnosis Schwartz, M. Blichfeldt, Susanne Müller, Jørn 1996 http://dx.doi.org/10.1007/s004390050316 http://link.springer.com/content/pdf/10.1007/s004390050316.pdf http://link.springer.com/article/10.1007/s004390050316/fulltext.html http://link.springer.com/content/pdf/10.1007/s004390050316 unknown Springer Science and Business Media LLC http://www.springer.com/tdm Human Genetics volume 99, issue 1, page 83-87 ISSN 0340-6717 1432-1203 Genetics(clinical) Genetics journal-article 1996 crspringernat https://doi.org/10.1007/s004390050316 2022-01-04T12:47:35Z Article in Journal/Newspaper greenlandic Springer Nature (via Crossref) Human Genetics 99 1 83 87
institution Open Polar
collection Springer Nature (via Crossref)
op_collection_id crspringernat
language unknown
topic Genetics(clinical)
Genetics
spellingShingle Genetics(clinical)
Genetics
Schwartz, M.
Blichfeldt, Susanne
Müller, Jørn
X-linked adrenal hypoplasia in a large Greenlandic family. Detection of a missense mutation (N440I) in the DAX-1 gene; implication for genetic counselling and carrier diagnosis
topic_facet Genetics(clinical)
Genetics
format Article in Journal/Newspaper
author Schwartz, M.
Blichfeldt, Susanne
Müller, Jørn
author_facet Schwartz, M.
Blichfeldt, Susanne
Müller, Jørn
author_sort Schwartz, M.
title X-linked adrenal hypoplasia in a large Greenlandic family. Detection of a missense mutation (N440I) in the DAX-1 gene; implication for genetic counselling and carrier diagnosis
title_short X-linked adrenal hypoplasia in a large Greenlandic family. Detection of a missense mutation (N440I) in the DAX-1 gene; implication for genetic counselling and carrier diagnosis
title_full X-linked adrenal hypoplasia in a large Greenlandic family. Detection of a missense mutation (N440I) in the DAX-1 gene; implication for genetic counselling and carrier diagnosis
title_fullStr X-linked adrenal hypoplasia in a large Greenlandic family. Detection of a missense mutation (N440I) in the DAX-1 gene; implication for genetic counselling and carrier diagnosis
title_full_unstemmed X-linked adrenal hypoplasia in a large Greenlandic family. Detection of a missense mutation (N440I) in the DAX-1 gene; implication for genetic counselling and carrier diagnosis
title_sort x-linked adrenal hypoplasia in a large greenlandic family. detection of a missense mutation (n440i) in the dax-1 gene; implication for genetic counselling and carrier diagnosis
publisher Springer Science and Business Media LLC
publishDate 1996
url http://dx.doi.org/10.1007/s004390050316
http://link.springer.com/content/pdf/10.1007/s004390050316.pdf
http://link.springer.com/article/10.1007/s004390050316/fulltext.html
http://link.springer.com/content/pdf/10.1007/s004390050316
genre greenlandic
genre_facet greenlandic
op_source Human Genetics
volume 99, issue 1, page 83-87
ISSN 0340-6717 1432-1203
op_rights http://www.springer.com/tdm
op_doi https://doi.org/10.1007/s004390050316
container_title Human Genetics
container_volume 99
container_issue 1
container_start_page 83
op_container_end_page 87
_version_ 1766020904034238464

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