Common sequence motifs at the rearrangement sites of a constitutional X/autosome translocation and associated deletion.

Common sequence motifs at the rearrangement sites of a constitutional X/autosome translocation and associated deletion.

Item
http://www.wikidata.org/entity/Q35195591
Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardationDisruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndromeMulti-exon deletions of the FBN1 gene in Marfan syndromeMendelian cytogenetics. Chromosome rearrangements associated with mendelian disordersDe novo der(X)t(X;10)(q26;q21) with features of distal trisomy 10q: case report of paternal origin identified by late replication with BrdU and the human androgen receptor assay (HAR).Parental origin and timing of de novo Robertsonian translocation formation.Hemizygous deletion of COL3A1, COL5A2, and MSTN causes a complex phenotype with aortic dissection: a lesson for and from true haploinsufficiencyOrganization of the human CD40L gene: implications for molecular defects in X chromosome-linked hyper-IgM syndrome and prenatal diagnosis.The complex nature of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypesA familial "balanced" 3;9 translocation with cryptic 8q insertion leading to deletion and duplication of 9p23 loci in siblings.Sequence analysis of the breakpoint regions of an X;5 translocation in a female with Duchenne muscular dystrophy.2012 William Allan Award: Adventures in cytogenetics.Medical genetics: advances in brief: Common sequence motifs at the rearrangement sites of a constitutional X/autosome translocation and associated deletion.Medical genetics: advances in brief: Cloning of cDNAs for Fanconi's anaemia by functional complementation.
P2860

Common sequence motifs at the rearrangement sites of a constitutional X/autosome translocation and associated deletion.

Item
http://www.wikidata.org/entity/Q35195591
description
1992 nî lūn-bûn
@nan
1992 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
1992 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
1992年の論文
@ja
1992年論文
@yue
1992年論文
@zh-hant
1992年論文
@zh-hk
1992年論文
@zh-mo
1992年論文
@zh-tw
1992年论文
@wuu
name
Common sequence motifs at the ...... ation and associated deletion.
@ast
Common sequence motifs at the ...... ation and associated deletion.
@en
type
label
Common sequence motifs at the ...... ation and associated deletion.
@ast
Common sequence motifs at the ...... ation and associated deletion.
@en
prefLabel
Common sequence motifs at the ...... ation and associated deletion.
@ast
Common sequence motifs at the ...... ation and associated deletion.
@en
P1433
P1476
P2093
P2860
P304
P31
P407
P433
P478
P577
P698
P932
P1433
P1476
Common sequence motifs at the ...... ation and associated deletion.
@en
P2093
P2860
P304
P31
P407
P433
P478
P577
P698
P932