|
rdf:type |
|
|
lifeskim:mentions |
|
|
pubmed:issue |
2
|
|
pubmed:dateCreated |
1997-5-28
|
|
pubmed:abstractText |
Male pseudohermaphroditism due to 5 alpha-reductase deficiency was originally described in 1974. Recently, 5 alpha-reductase Type 2 gene defects have been found generally to be due to point mutations within the 5 exons of the 5 alpha-reductase-2 gene. In this report, we describe the molecular study of patients with 5 alpha-reductase deficiency.
|
|
pubmed:language |
eng
|
|
pubmed:journal |
|
|
pubmed:citationSubset |
IM
|
|
pubmed:chemical |
|
|
pubmed:status |
MEDLINE
|
|
pubmed:month |
Feb
|
|
pubmed:issn |
0300-0664
|
|
pubmed:author |
|
|
pubmed:issnType |
Print
|
|
pubmed:volume |
46
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
|
pubmed:pagination |
155-60
|
|
pubmed:dateRevised |
2010-11-18
|
|
pubmed:meshHeading |
pubmed-meshheading:9135696-3-Oxo-5-alpha-Steroid 4-Dehydrogenase,
pubmed-meshheading:9135696-Adolescent,
pubmed-meshheading:9135696-Adult,
pubmed-meshheading:9135696-Disorders of Sex Development,
pubmed-meshheading:9135696-Exons,
pubmed-meshheading:9135696-Humans,
pubmed-meshheading:9135696-Male,
pubmed-meshheading:9135696-Mexico,
pubmed-meshheading:9135696-Pedigree,
pubmed-meshheading:9135696-Point Mutation,
pubmed-meshheading:9135696-Polymerase Chain Reaction,
pubmed-meshheading:9135696-Polymorphism, Single-Stranded Conformational,
pubmed-meshheading:9135696-Sequence Analysis, DNA
|
|
pubmed:year |
1997
|
|
pubmed:articleTitle |
Mutations of the 5 alpha-reductase type 2 gene in eight Mexican patients from six different pedigrees with 5 alpha-reductase-2 deficiency.
|
|
pubmed:affiliation |
Department of Reproductive Biology, Instituto Nacional de la Nutrición Salvador Zubirán, México, D.F., México.
|
|
pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
|
