A fragile X mosaic male with a cryptic full mutation detected in epithelium but not in blood.
about
The role of AGG interruptions in fragile X repeat expansions: a twenty-year perspectiveRepeat-mediated genetic and epigenetic changes at the FMR1 locus in the Fragile X-related disordersClinical utility gene card for: fragile X mental retardation syndrome, fragile X-associated tremor/ataxia syndrome and fragile X-associated primary ovarian insufficiencyAnalytical and Clinical Validity Study of FirstStepDx PLUS: A Chromosomal Microarray Optimized for Patients with Neurodevelopmental Conditions.Postmortem examination of two fragile X brothers with an FMR1 full mutation.FMR1 gene expression in olfactory neuroblasts from two males with fragile X syndrome.Clinical involvement and protein expression in individuals with the FMR1 premutation.
P2860
Q27010529-BA2F16D3-8541-4B22-BBE0-1D89428830FAQ27011565-9DB6E567-6039-4F81-BF4A-37B578BE9161Q35230078-163B5CD0-D461-4CD7-84E4-FACA22A07282Q36327651-3D35524D-AA2E-49B4-A6D5-5F9DF1D1BAACQ48207180-2703B2E7-7359-43E7-93DC-9CC194FC1B27Q48300723-A1F37161-E33B-44F5-B13E-B00AE990FFDAQ52169510-427570DD-7FC6-4565-8A10-E81BFDA0EBC8
P2860
A fragile X mosaic male with a cryptic full mutation detected in epithelium but not in blood.
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 mosaic male with a ...... n epithelium but not in blood.
@en
A fragile X mosaic male with a ...... n epithelium but not in blood.
@nl
type
label
A fragile X mosaic male with a ...... n epithelium but not in blood.
@en
A fragile X mosaic male with a ...... n epithelium but not in blood.
@nl
prefLabel
A fragile X mosaic male with a ...... n epithelium but not in blood.
@en
A fragile X mosaic male with a ...... n epithelium but not in blood.
@nl
P2093
P2860
P1476
A fragile X mosaic male with a ...... n epithelium but not in blood.
@en
P2093
Howard-Peebles PN
Maddalena A
Yadvish KN
P2860
P304
P356
10.1002/(SICI)1096-8628(19960809)64:2<309::AID-AJMG15>3.0.CO;2-J
P577
1996-08-01T00:00:00Z