Mapping the Treacher Collins syndrome locus to 5q31.3----q33.3

Mapping the Treacher Collins syndrome locus to 5q31.3----q33.3

Item
http://www.wikidata.org/entity/Q28237730
The Treacher Collins syndrome (TCOF1) gene product is involved in ribosomal DNA gene transcription by interacting with upstream binding factorTCOF1 gene encodes a putative nucleolar phosphoprotein that exhibits mutations in Treacher Collins Syndrome throughout its coding regionThe whole nucleotide sequence and chromosomal localization of the gene for human metabotropic glutamate receptor subtype 6Prenatal diagnosis in Treacher Collins syndrome using combined linkage analysis and ultrasound imaging.Treacher Collins syndromeThe gene for an inherited form of deafness maps to chromosome 5q31Narrowing the position of the Treacher Collins syndrome locus to a small interval between three new microsatellite markers at 5q32-33.1The mutational spectrum in Treacher Collins syndrome reveals a predominance of mutations that create a premature-termination codonIdentification of the complete coding sequence and genomic organization of the Treacher Collins syndrome geneCytogenetic and clinical assessment of a family with treacher collins syndrome.A YAC contig encompassing the Treacher Collins syndrome critical region at 5q31.3-32.PCR-based microsatellite polymorphisms in the detection of loss of heterozygosity in fresh and archival tumour tissue.Clinical applications of whole-genome association studies: future applications at the bedside.Mandibulofacial dysostosis (Treacher-Collins syndrome) in the fetus: novel association with Pectus carinatum in a molecularly confirmed case and review of the fetal phenotype.Abnormal craniofacial growth.How Do We Study the Dynamic Structure of Unstructured Proteins: A Case Study on Nopp140 as an Example of a Large, Intrinsically Disordered Protein.Attitudes toward prenatal genetic testing for Treacher Collins syndrome among affected individuals and families
P2860

Mapping the Treacher Collins syndrome locus to 5q31.3----q33.3

Item
http://www.wikidata.org/entity/Q28237730
description
1991 nî lūn-bûn
@nan
1991 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
1991 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
1991年の論文
@ja
1991年論文
@yue
1991年論文
@zh-hant
1991年論文
@zh-hk
1991年論文
@zh-mo
1991年論文
@zh-tw
1991年论文
@wuu
name
Mapping the Treacher Collins syndrome locus to 5q31.3----q33.3
@ast
Mapping the Treacher Collins syndrome locus to 5q31.3----q33.3
@en
Mapping the Treacher Collins syndrome locus to 5q31.3----q33.3
@nl
type
label
Mapping the Treacher Collins syndrome locus to 5q31.3----q33.3
@ast
Mapping the Treacher Collins syndrome locus to 5q31.3----q33.3
@en
Mapping the Treacher Collins syndrome locus to 5q31.3----q33.3
@nl
prefLabel
Mapping the Treacher Collins syndrome locus to 5q31.3----q33.3
@ast
Mapping the Treacher Collins syndrome locus to 5q31.3----q33.3
@en
Mapping the Treacher Collins syndrome locus to 5q31.3----q33.3
@nl
P1433
P1476
P2093
P304
P31
P356
P407
P433
P478
P577
P698
P356
P1433
P1476
Mapping the Treacher Collins syndrome locus to 5q31.3----q33.3
@en
P2093
P304
P31
P356
10.1016/0888-7543(91)90118-X
P407
P433
P478
P577
P698