Linked Life Data

15008251

Source:http://linkedlifedata.com/resource/pubmed/id/15008251

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
11
pubmed:dateCreated
2004-3-10
pubmed:abstractText
The sex-determining region of the Y chromosome (SRY) gene initiates the process of male sex differentiation in mammalians. In humans, mutations in the SRY gene have been reported to account for 10-15% of the XY sex reversal cases. In this report we describe the clinical, endocrinological and molecular data of a patient with complete 46,XY gonadal dysgenesis caused by a de novo mutation affecting SRY amino acid phenylalanine at position 67 (F67L), located within the highly conserved high mobility group (HMG) box coding region of the gene.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Nov
pubmed:issn
0391-4097
pubmed:author
pubmed:issnType
Print
pubmed:volume
26
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1117-9
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
2003
pubmed:articleTitle
A de novo phe671eu mutation in the SRY gene in a patient with complete 46,XY gonadal dysgenesis.
pubmed:affiliation
Servicio de Genetica, Hospital General de Mexico-Facultad de Medicina, UNAM, Mexico, D.F., Mexico.
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't