A fragile X male with a broad smear on Southern blot analysis representing 100-500 CGG repeats and no methylation at the EagI site of the FMR-1 gene.
about
Unusual mutations in high functioning fragile X males: apparent instability of expanded unmethylated CGG repeats.Hypomethylation of an expanded FMR1 allele is not associated with a global DNA methylation defect.Fragile X syndrome. Molecular and clinical insights and treatment issuesDiscourse processing in women with fragile x syndrome: evidence for a deficit establishing coherence.Don't miss patients with atypical FMR1 mutations: dysmorphism and clinical features in a boy with a partially methylated FMR1 full mutation.Fragile X males with unmethylated, full mutation trinucleotide repeat expansions have elevated levels of FMR1 messenger RNA.
P2860
A fragile X male with a broad smear on Southern blot analysis representing 100-500 CGG repeats and no methylation at the EagI site of the FMR-1 gene.
description
1996 nî lūn-bûn
@nan
1996年の論文
@ja
1996年学术文章
@wuu
1996年学术文章
@zh
1996年学术文章
@zh-cn
1996年学术文章
@zh-hans
1996年学术文章
@zh-my
1996年学术文章
@zh-sg
1996年學術文章
@yue
1996年學術文章
@zh-hant
name
A fragile X male with a broad ...... e EagI site of the FMR-1 gene.
@en
A fragile X male with a broad ...... e EagI site of the FMR-1 gene.
@nl
type
label
A fragile X male with a broad ...... e EagI site of the FMR-1 gene.
@en
A fragile X male with a broad ...... e EagI site of the FMR-1 gene.
@nl
prefLabel
A fragile X male with a broad ...... e EagI site of the FMR-1 gene.
@en
A fragile X male with a broad ...... e EagI site of the FMR-1 gene.
@nl
P2093
P2860
P1476
A fragile X male with a broad ...... e EagI site of the FMR-1 gene.
@en
P2093
Lachiewicz AM
McConkie-Rosell A
Spiridigliozzi GA
Tarleton J
P2860
P304
P356
10.1002/(SICI)1096-8628(19960809)64:2<278::AID-AJMG9>3.0.CO;2-Q
P577
1996-08-01T00:00:00Z