Rieger syndrome locus: a new reciprocal translocation t(4;12)(q25;q15) and a deletion del(4)(q25q27) both break between markers D4S2945 and D4S193
about
Differential regulation of gene expression by PITX2 isoformsMultiple congenital anomalies including the Rieger eye malformation in a boy with interstitial deletion of (4) (q25-->q27) secondary to a balanced insertion in his normal father: evidence for haplotype insufficiency causing the Rieger malformation.A new approach to the elucidation of complex chromosome rearrangements illustrated by a case of Rieger syndrome.Genomic identification of regulatory elements by evolutionary sequence comparison and functional analysisAxenfeld-Rieger syndrome and spectrum of PITX2 and FOXC1 mutationsPotential novel mechanism for Axenfeld-Rieger syndrome: deletion of a distant region containing regulatory elements of PITX2Chromosome abnormalities and the genetics of congenital corneal opacification.Novel PITX2 gene mutations in patients with Axenfeld-Rieger syndrome.
P2860
Q28214392-3600913D-C001-4B0F-902A-AFD75F6624CBQ33679891-54EDB4F0-1177-4755-9657-6514121C9B98Q33680385-8CD55A78-11AA-47AC-B112-2CAA5847B7A2Q33899702-708EC3E2-CAB6-4060-83F7-C9216B05B3F2Q34328168-B5AC6962-A8C9-42ED-AB02-47FF4B3E9910Q35005916-5B87E6EC-134A-48BC-A33E-396043E36DC2Q35068028-9507F597-6D71-4098-9F8F-42807745B784Q50217985-D4E330FC-DCED-45CA-A709-4CB5B6F31238
P2860
Rieger syndrome locus: a new reciprocal translocation t(4;12)(q25;q15) and a deletion del(4)(q25q27) both break between markers D4S2945 and D4S193
description
1997 nî lūn-bûn
@nan
1997 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
1997 թվականի մարտին հրատարակված գիտական հոդված
@hy
1997年の論文
@ja
1997年論文
@yue
1997年論文
@zh-hant
1997年論文
@zh-hk
1997年論文
@zh-mo
1997年論文
@zh-tw
1997年论文
@wuu
name
Rieger syndrome locus: a new r ...... een markers D4S2945 and D4S193
@ast
Rieger syndrome locus: a new r ...... een markers D4S2945 and D4S193
@en
type
label
Rieger syndrome locus: a new r ...... een markers D4S2945 and D4S193
@ast
Rieger syndrome locus: a new r ...... een markers D4S2945 and D4S193
@en
prefLabel
Rieger syndrome locus: a new r ...... een markers D4S2945 and D4S193
@ast
Rieger syndrome locus: a new r ...... een markers D4S2945 and D4S193
@en
P2093
P2860
P356
P1476
Rieger syndrome locus: a new r ...... een markers D4S2945 and D4S193
@en
P2093
P A Gorman
R H Flomen
R Vatcheva
P2860
P304
P356
10.1136/JMG.34.3.191
P407
P577
1997-03-01T00:00:00Z