A 4-megabase YAC contig that spans the Langer-Giedion syndrome region on human chromosome 8q24.1: use in refining the location of the trichorhinophalangeal syndrome and multiple exostoses genes (TRPS1 and EXT1)

A 4-megabase YAC contig that spans the Langer-Giedion syndrome region on human chromosome 8q24.1: use in refining the location of the trichorhinophalangeal syndrome and multiple exostoses genes (TRPS1 and EXT1)

Item
http://www.wikidata.org/entity/Q28271165
Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type IDiminished levels of the putative tumor suppressor proteins EXT1 and EXT2 in exostosis chondrocytesClonal karyotypic abnormalities of the hereditary multiple exostoses chromosomal loci 8q24.1 (EXT1) and 11p11-12 (EXT2) in patients with sporadic and hereditary osteochondromasA 4 Mb cryptic deletion associated with inv(8)(q13.1q24.11) in a patient with trichorhinophalangeal syndrome type I.A novel TRPS1 gene mutation causing trichorhinophalangeal syndrome with growth hormone responsive short stature: a case report and review of the literature.A central role for TRPS1 in the control of cell cycle and cancer development.The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome.Rapid and inexpensive screening of genomic copy number variations using a novel quantitative fluorescent PCR method.High grade osteosarcoma on a background of trichorhinophalangeal syndrome: A family perspective.Partial DiGeorge syndrome in two patients with a 10p rearrangement.
P2860

A 4-megabase YAC contig that spans the Langer-Giedion syndrome region on human chromosome 8q24.1: use in refining the location of the trichorhinophalangeal syndrome and multiple exostoses genes (TRPS1 and EXT1)

Item
http://www.wikidata.org/entity/Q28271165
description
1995 nî lūn-bûn
@nan
1995 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
1995 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
1995年の論文
@ja
1995年論文
@yue
1995年論文
@zh-hant
1995年論文
@zh-hk
1995年論文
@zh-mo
1995年論文
@zh-tw
1995年论文
@wuu
name
A 4-megabase YAC contig that s ...... ostoses genes (TRPS1 and EXT1)
@ast
A 4-megabase YAC contig that s ...... ostoses genes (TRPS1 and EXT1)
@en
A 4-megabase YAC contig that s ...... ostoses genes (TRPS1 and EXT1)
@nl
type
label
A 4-megabase YAC contig that s ...... ostoses genes (TRPS1 and EXT1)
@ast
A 4-megabase YAC contig that s ...... ostoses genes (TRPS1 and EXT1)
@en
A 4-megabase YAC contig that s ...... ostoses genes (TRPS1 and EXT1)
@nl
prefLabel
A 4-megabase YAC contig that s ...... ostoses genes (TRPS1 and EXT1)
@ast
A 4-megabase YAC contig that s ...... ostoses genes (TRPS1 and EXT1)
@en
A 4-megabase YAC contig that s ...... ostoses genes (TRPS1 and EXT1)
@nl
P1433
P1476
P2093
P304
P31
P356
P407
P433
P478
P577
P698
P356
P1433
P1476
A 4-megabase YAC contig that s ...... ostoses genes (TRPS1 and EXT1)
@en
P2093
P304
P31
P356
P407
P433
P478
P577
P698