Unusual (CGG)n expansion and recombination in a family with fragile X and DiGeorge syndrome.
about
FMR1 triplet arrays: paying the price for perfection.Cloned human FMR1 trinucleotide repeats exhibit a length- and orientation-dependent instability suggestive of in vivo lagging strand secondary structure.Familial transmission of the FMR1 CGG repeat.Screening for fragile X syndrome: information needs for health planners.Haplotypic determinants of instability in the FRAX region: Concatenated mutation or founder effect?The role of size, sequence and haplotype in the stability of FRAXA and FRAXE alleles during transmission.Fragile X full mutation expansions are inhibited by one or more AGG interruptions in premutation carriers.Expansion to full mutation of a FMR1 intermediate allele over two generations.Evolution of the cryptic FMR1 CGG repeat.JAG1Mutation in a patient with deletion 22q11.2 syndrome and tetralogy of Fallot
P2860
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P2860
Unusual (CGG)n expansion and recombination in a family with fragile X and DiGeorge syndrome.
description
1995 nî lūn-bûn
@nan
1995 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
1995 թվականի մարտին 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
Unusual (CGG)n expansion and r ...... agile X and DiGeorge syndrome.
@ast
Unusual (CGG)n expansion and r ...... agile X and DiGeorge syndrome.
@en
type
label
Unusual (CGG)n expansion and r ...... agile X and DiGeorge syndrome.
@ast
Unusual (CGG)n expansion and r ...... agile X and DiGeorge syndrome.
@en
prefLabel
Unusual (CGG)n expansion and r ...... agile X and DiGeorge syndrome.
@ast
Unusual (CGG)n expansion and r ...... agile X and DiGeorge syndrome.
@en
P2093
P2860
P356
P1476
Unusual (CGG)n expansion and r ...... agile X and DiGeorge syndrome.
@en
P2093
J A Crolla
J N Macpherson
K E Davies
P A Jacobs
P K Grewal
P2860
P304
P356
10.1136/JMG.32.3.236
P407
P577
1995-03-01T00:00:00Z