Predicate |
Object |
contentType |
Journal Article|Research Support, Non-U.S. Gov't |
endingPage |
87 |
issn |
0340-6717 1432-1203 |
issueIdentifier |
1 |
pageRange |
83-87 |
publicationName |
Human Genetics |
startingPage |
83 |
bibliographicCitation |
Schwartz M, Blichfeldt S, Müller J. X-linked adrenal hypoplasia in a large Greenlandic family. Detection of a missense mutation (N4401) in the DAX-1 gene; implication for genetic counselling and carrier diagnosis. Hum Genet. 1997 Jan;99(1):83–7. doi: 10.1007/s004390050316. PMID: 9003500. |
creator |
http://rdf.ncbi.nlm.nih.gov/pubchem/author/MD5_26b67a4c5e4d37fec7ed2264f95d9280 http://rdf.ncbi.nlm.nih.gov/pubchem/author/MD5_885dfe8947ab8351fbe83defb3b4c92d http://rdf.ncbi.nlm.nih.gov/pubchem/author/MD5_150c8a2a78feed3b2fe0870a8a790438 |
date |
1996-12-03-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
identifier |
https://pubmed.ncbi.nlm.nih.gov/9003500 https://doi.org/10.1007/s004390050316 |
isPartOf |
https://portal.issn.org/resource/ISSN/1432-1203 https://portal.issn.org/resource/ISSN/0340-6717 http://rdf.ncbi.nlm.nih.gov/pubchem/journal/4137 |
language |
English |
source |
https://pubmed.ncbi.nlm.nih.gov/ https://scigraph.springernature.com/ https://www.crossref.org/ |
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 |
discusses |
http://id.nlm.nih.gov/mesh/M0487990 http://id.nlm.nih.gov/mesh/M0010707 http://id.nlm.nih.gov/mesh/M0018809 http://id.nlm.nih.gov/mesh/M0021196 http://id.nlm.nih.gov/mesh/M0021788 http://id.nlm.nih.gov/mesh/M0534812 http://id.nlm.nih.gov/mesh/M0006678 http://id.nlm.nih.gov/mesh/M0027090 http://id.nlm.nih.gov/mesh/M0008577 http://id.nlm.nih.gov/mesh/M0027390 |
discussesAsDerivedByTextMining |
http://rdf.ncbi.nlm.nih.gov/pubchem/gene/MD5_fa5c65daeadf15676b8850bbea1a05c3 http://rdf.ncbi.nlm.nih.gov/pubchem/disease/DZID8122 http://rdf.ncbi.nlm.nih.gov/pubchem/disease/DZID6637 |