Linked Life Data

21911699

Source:http://linkedlifedata.com/resource/pubmed/id/21911699

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
9
pubmed:dateCreated
2011-9-13
pubmed:abstractText
To further delineate the clinical spectrum of hypomyelination and congenital cataract (HCC), a rare autosomal recessive white matter disorder due to deficiency of a membrane protein, hyccin, encoded by FAM126A.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
AIM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Sep
pubmed:issn
1538-3687
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
68
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1191-4
pubmed:meshHeading
pubmed:year
2011
pubmed:articleTitle
Hypomyelination and congenital cataract: broadening the clinical phenotype.
pubmed:affiliation
Department of Neuroscience, G. Gaslini Institute, Genova, Italy. roberta@biancheri.com
pubmed:publicationType
Journal Article, Review, Case Reports, Research Support, Non-U.S. Gov't