Congenital Fiber Type Disproportion Genetics
Novel heterogeneous missense mutations in five families with congenital fiber type disproportion (CFTD) were identified in a study at Children's Hospital at Westmead, University of Sydney, and other centers in Australia, Canada, and France.
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| Format: | Article |
| Language: | English |
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Pediatric Neurology Briefs Publishers
2008-04-01
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| Series: | Pediatric Neurology Briefs |
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| Online Access: | https://www.pediatricneurologybriefs.com/articles/922 |
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| _version_ | 1850263203465920512 |
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| author | J Gordon Millichap |
| author_facet | J Gordon Millichap |
| author_sort | J Gordon Millichap |
| collection | DOAJ |
| description | Novel heterogeneous missense mutations in five families with congenital fiber type disproportion (CFTD) were identified in a study at Children's Hospital at Westmead, University of Sydney, and other centers in Australia, Canada, and France. |
| format | Article |
| id | doaj-art-342f08e3f8bd45d68b14907dbc7c5f92 |
| institution | OA Journals |
| issn | 1043-3155 2166-6482 |
| language | English |
| publishDate | 2008-04-01 |
| publisher | Pediatric Neurology Briefs Publishers |
| record_format | Article |
| series | Pediatric Neurology Briefs |
| spelling | doaj-art-342f08e3f8bd45d68b14907dbc7c5f922025-08-20T01:55:01ZengPediatric Neurology Briefs PublishersPediatric Neurology Briefs1043-31552166-64822008-04-01224303110.15844/pedneurbriefs-22-4-7908Congenital Fiber Type Disproportion GeneticsJ Gordon Millichap0Northwestern University Feinberg School of MedicineNovel heterogeneous missense mutations in five families with congenital fiber type disproportion (CFTD) were identified in a study at Children's Hospital at Westmead, University of Sydney, and other centers in Australia, Canada, and France.https://www.pediatricneurologybriefs.com/articles/922congenital fiber type disproportionintellectual functiontpm3 mutation |
| spellingShingle | J Gordon Millichap Congenital Fiber Type Disproportion Genetics Pediatric Neurology Briefs congenital fiber type disproportion intellectual function tpm3 mutation |
| title | Congenital Fiber Type Disproportion Genetics |
| title_full | Congenital Fiber Type Disproportion Genetics |
| title_fullStr | Congenital Fiber Type Disproportion Genetics |
| title_full_unstemmed | Congenital Fiber Type Disproportion Genetics |
| title_short | Congenital Fiber Type Disproportion Genetics |
| title_sort | congenital fiber type disproportion genetics |
| topic | congenital fiber type disproportion intellectual function tpm3 mutation |
| url | https://www.pediatricneurologybriefs.com/articles/922 |
| work_keys_str_mv | AT jgordonmillichap congenitalfibertypedisproportiongenetics |