Choroideremia and deafness with stapes fixation: a contiguous gene deletion syndrome in Xq21
about
A human homologue of the Drosophila melanogaster diaphanous gene is disrupted in a patient with premature ovarian failure: evidence for conserved function in oogenesis and implications for human sterilityIsolation of a candidate gene for choroideremiaX-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: localization to Xq12-q21.31 by X inactivation and linkage analysisDetection and characterization of point mutations in the choroideremia candidate gene by PCR-SSCP analysis and direct DNA sequencingDeletions in patients with classical choroideremia vary in size from 45 kb to several megabasesMutation of the zebrafish choroideremia gene encoding Rab escort protein 1 devastates hair cells.Microdeletions in patients with gusher-associated, X-linked mixed deafness (DFN3)Linkage analysis of Norrie disease with X-chromosomal ornithine aminotransferaseDerivation of clones from the choroideremia locus by preparative field inversion gel electrophoresis.Characterisation and genetic mapping of a new X linked deafness syndrome.Multipoint linkage analysis in Menkes disease.The gene responsible for X-linked cleft palate (CPX) in a British Columbia native kindred is localized between PGK1 and DXYS1.Phenotypic and genetic characterization of a family carrying two Xq21.1-21.3 interstitial deletions associated with syndromic hearing loss.Pathogenic mechanisms and the prospect of gene therapy for choroideremia.Localisation of two candidate genes for mental retardation using a YAC physical map of the Xq21.1-21.2 subbands.Deletion mapping of X-linked mixed deafness (DFN3) identifies a 265-525-kb region centromeric of DXS26.
P2860
Q24316260-F0E85268-5B1B-40D4-B675-F6B570FE098DQ24562765-F13DF0F0-C440-4B89-BB27-B5A45E393EADQ24669551-7B861587-4310-4F54-8F93-8B94C98CE1DDQ24670293-DC0CCEB5-0080-4ACE-B3BB-7BB3EDADE089Q24676605-784F10DD-1DD9-4D7E-9AC6-17ED53C18F79Q30500891-29CB1898-95C0-415D-9C74-6E9201747949Q30501626-0B6D7093-C4B1-4C7F-8A9F-C014BAC7B1CBQ30502692-EDFBEEB4-5503-4A78-A8ED-5ED4DFC7F45DQ33494932-15F9CB19-25CC-42C5-8DBB-50B9520CD6D1Q34080221-B1C4F365-D046-4195-8876-3CF7AA7863E3Q35195463-655F4B1A-D601-464E-BC49-923A5CB03474Q35195562-2699C236-FF8B-4B80-B962-638B777EA824Q35223619-BD75F33D-C4F3-465D-BA6B-D1F92996F56BQ35910610-570D3C30-EA99-4209-94FB-5B2AA8754682Q42662348-318DDA73-61D8-448C-B9C7-B191159A6AC3Q42951290-760C17DB-1FAF-4589-861E-9DFC5A923BC1
P2860
Choroideremia and deafness with stapes fixation: a contiguous gene deletion syndrome in Xq21
description
1989 nî lūn-bûn
@nan
1989 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1989 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
1989年の論文
@ja
1989年論文
@yue
1989年論文
@zh-hant
1989年論文
@zh-hk
1989年論文
@zh-mo
1989年論文
@zh-tw
1989年论文
@wuu
name
Choroideremia and deafness wit ...... gene deletion syndrome in Xq21
@ast
Choroideremia and deafness wit ...... gene deletion syndrome in Xq21
@en
Choroideremia and deafness wit ...... gene deletion syndrome in Xq21
@nl
type
label
Choroideremia and deafness wit ...... gene deletion syndrome in Xq21
@ast
Choroideremia and deafness wit ...... gene deletion syndrome in Xq21
@en
Choroideremia and deafness wit ...... gene deletion syndrome in Xq21
@nl
prefLabel
Choroideremia and deafness wit ...... gene deletion syndrome in Xq21
@ast
Choroideremia and deafness wit ...... gene deletion syndrome in Xq21
@en
Choroideremia and deafness wit ...... gene deletion syndrome in Xq21
@nl
P2093
P2860
P1476
Choroideremia and deafness wit ...... gene deletion syndrome in Xq21
@en
P2093
D M Sosnoski
F S Collins
G van den Engh
M Lubinsky
R L Nussbaum
P2860
P304
P407
P577
1989-10-01T00:00:00Z