| pubmed-article:9554756 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:9554756 | lifeskim:mentions | umls-concept:C0241888 | lld:lifeskim |
| pubmed-article:9554756 | lifeskim:mentions | umls-concept:C2697833 | lld:lifeskim |
| pubmed-article:9554756 | lifeskim:mentions | umls-concept:C0017337 | lld:lifeskim |
| pubmed-article:9554756 | lifeskim:mentions | umls-concept:C0026882 | lld:lifeskim |
| pubmed-article:9554756 | lifeskim:mentions | umls-concept:C0162809 | lld:lifeskim |
| pubmed-article:9554756 | lifeskim:mentions | umls-concept:C1418550 | lld:lifeskim |
| pubmed-article:9554756 | lifeskim:mentions | umls-concept:C0679622 | lld:lifeskim |
| pubmed-article:9554756 | lifeskim:mentions | umls-concept:C0205314 | lld:lifeskim |
| pubmed-article:9554756 | pubmed:issue | 4 | lld:pubmed |
| pubmed-article:9554756 | pubmed:dateCreated | 1998-6-4 | lld:pubmed |
| pubmed-article:9554756 | pubmed:abstractText | Kallmann syndrome is an inherited disease which is characterised by anosmia (inability to smell) and hypogonadotropic hypogonadism both of which are thought to occur as a result of a failure of correct neuronal migration. To date the only genetic lesions identified are mutations in the X-linked gene, KAL. We conducted a mutation screen of the KAL gene in a family with Kallmann syndrome. This identified a new mutation in the KAL gene which removed an acceptor site at the junction of exon 6/intron 5. Exon 6 of the KAL gene encodes the C-terminal portion of a fibronectin type III domain may be involved in axonal pathfinding. We presume that the described mutation would result in the removal of exon 6 resulting in a frame shift which terminates the protein prematurely. It has been proposed that both mental illness and vesico-ureteric reflux are associated with mutations in the KAL gene. However, results from the family presented here do not show an association between either trait and the KAL gene mutation. | lld:pubmed |
| pubmed-article:9554756 | pubmed:language | eng | lld:pubmed |
| pubmed-article:9554756 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:9554756 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:9554756 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:9554756 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:9554756 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:9554756 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:9554756 | pubmed:issn | 1059-7794 | lld:pubmed |
| pubmed-article:9554756 | pubmed:author | pubmed-author:SmithM JMJ | lld:pubmed |
| pubmed-article:9554756 | pubmed:author | pubmed-author:O'NeillM JMJ | lld:pubmed |
| pubmed-article:9554756 | pubmed:author | pubmed-author:WarmeG EGE | lld:pubmed |
| pubmed-article:9554756 | pubmed:author | pubmed-author:SinclairA HAH | lld:pubmed |
| pubmed-article:9554756 | pubmed:author | pubmed-author:BellK MKM | lld:pubmed |
| pubmed-article:9554756 | pubmed:author | pubmed-author:TridjajaBB | lld:pubmed |
| pubmed-article:9554756 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:9554756 | pubmed:volume | 11 | lld:pubmed |
| pubmed-article:9554756 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:9554756 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:9554756 | pubmed:pagination | 340-2 | lld:pubmed |
| pubmed-article:9554756 | pubmed:dateRevised | 2006-11-15 | lld:pubmed |
| pubmed-article:9554756 | pubmed:meshHeading | pubmed-meshheading:9554756-... | lld:pubmed |
| pubmed-article:9554756 | pubmed:meshHeading | pubmed-meshheading:9554756-... | lld:pubmed |
| pubmed-article:9554756 | pubmed:meshHeading | pubmed-meshheading:9554756-... | lld:pubmed |
| pubmed-article:9554756 | pubmed:meshHeading | pubmed-meshheading:9554756-... | lld:pubmed |
| pubmed-article:9554756 | pubmed:meshHeading | pubmed-meshheading:9554756-... | lld:pubmed |
| pubmed-article:9554756 | pubmed:meshHeading | pubmed-meshheading:9554756-... | lld:pubmed |
| pubmed-article:9554756 | pubmed:meshHeading | pubmed-meshheading:9554756-... | lld:pubmed |
| pubmed-article:9554756 | pubmed:meshHeading | pubmed-meshheading:9554756-... | lld:pubmed |
| pubmed-article:9554756 | pubmed:meshHeading | pubmed-meshheading:9554756-... | lld:pubmed |
| pubmed-article:9554756 | pubmed:meshHeading | pubmed-meshheading:9554756-... | lld:pubmed |
| pubmed-article:9554756 | pubmed:meshHeading | pubmed-meshheading:9554756-... | lld:pubmed |
| pubmed-article:9554756 | pubmed:meshHeading | pubmed-meshheading:9554756-... | lld:pubmed |
| pubmed-article:9554756 | pubmed:meshHeading | pubmed-meshheading:9554756-... | lld:pubmed |
| pubmed-article:9554756 | pubmed:meshHeading | pubmed-meshheading:9554756-... | lld:pubmed |
| pubmed-article:9554756 | pubmed:year | 1998 | lld:pubmed |
| pubmed-article:9554756 | pubmed:articleTitle | Familial Kallmann syndrome: a novel splice acceptor mutation in the KAL gene. | lld:pubmed |
| pubmed-article:9554756 | pubmed:affiliation | Dept. of Paediatrics & Centre for Hormone Research University of Melbourne, Royal Children's Hospital Parkville, Victoria, Australia. | lld:pubmed |
| pubmed-article:9554756 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:9554756 | pubmed:publicationType | Case Reports | lld:pubmed |
| pubmed-article:9554756 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:9554756 | lld:pubmed |
