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- Title
A large cohort study confirming that specific haplotype 4A161PAS is exclusively associated with the Chinese FSHD1.
- Authors
Lin, F.; He, J‐J.; Lin, X‐D.; Wang, D‐N.; Lin, H‐X.; Liu, X‐Y.; Lin, M‐T.; Wang, N.; Wang, Z‐Q.
- Abstract
The article discusses research which analyzed 110 independent normal individuals and 178 patients with the epigenetic disease facioscapulohumeral muscular dystrophy (FSHD) type 1 from 136 unrelated Chinese families to determine whether the unique 4A161PAS haplotype is required for the development of FSHD1. Topics discussed include the grouping of the standard 4q/10q chromosomes into five differnent 4q haplotypes, a brief background on FSHD1 and interpretation of the research findings.
- Subjects
EPIGENETICS; FACIOSCAPULOHUMERAL muscular dystrophy; HAPLOTYPES; MEDICAL genetics; MUSCULAR dystrophy genetics; GENETICS
- Publication
Clinical Genetics, 2016, Vol 90, Issue 6, p558
- ISSN
0009-9163
- Publication type
Article
- DOI
10.1111/cge.12858