Hereditary Motor and Sensory Neuropathy Mutation
A duplication in chromosome 17 responsible for most cases of autosomal dominant HMSN 1 was present as a de-novo mutation in 9 out of 10 sporadic patients examined at the Department of Neurology, Academic Medical Center, Amsterdam, The Netherlands.
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| Format: | Article |
| Language: | English |
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Pediatric Neurology Briefs Publishers
1992-06-01
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| Series: | Pediatric Neurology Briefs |
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| Online Access: | https://www.pediatricneurologybriefs.com/articles/3011 |
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Article |
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doaj-2d1f949573274a58b860554f7f12d8a02020-11-25T02:17:47ZengPediatric Neurology Briefs PublishersPediatric Neurology Briefs1043-31552166-64821992-06-0166444410.15844/pedneurbriefs-6-6-52997Hereditary Motor and Sensory Neuropathy MutationJ Gordon Millichap0Northwestern University Feinberg School of MedicineA duplication in chromosome 17 responsible for most cases of autosomal dominant HMSN 1 was present as a de-novo mutation in 9 out of 10 sporadic patients examined at the Department of Neurology, Academic Medical Center, Amsterdam, The Netherlands.https://www.pediatricneurologybriefs.com/articles/3011de-novo mutationautosomal recessivegenetic loci |
| collection |
DOAJ |
| language |
English |
| format |
Article |
| sources |
DOAJ |
| author |
J Gordon Millichap |
| spellingShingle |
J Gordon Millichap Hereditary Motor and Sensory Neuropathy Mutation Pediatric Neurology Briefs de-novo mutation autosomal recessive genetic loci |
| author_facet |
J Gordon Millichap |
| author_sort |
J Gordon Millichap |
| title |
Hereditary Motor and Sensory Neuropathy Mutation |
| title_short |
Hereditary Motor and Sensory Neuropathy Mutation |
| title_full |
Hereditary Motor and Sensory Neuropathy Mutation |
| title_fullStr |
Hereditary Motor and Sensory Neuropathy Mutation |
| title_full_unstemmed |
Hereditary Motor and Sensory Neuropathy Mutation |
| title_sort |
hereditary motor and sensory neuropathy mutation |
| publisher |
Pediatric Neurology Briefs Publishers |
| series |
Pediatric Neurology Briefs |
| issn |
1043-3155 2166-6482 |
| publishDate |
1992-06-01 |
| description |
A duplication in chromosome 17 responsible for most cases of autosomal dominant HMSN 1 was present as a de-novo mutation in 9 out of 10 sporadic patients examined at the Department of Neurology, Academic Medical Center, Amsterdam, The Netherlands. |
| topic |
de-novo mutation autosomal recessive genetic loci |
| url |
https://www.pediatricneurologybriefs.com/articles/3011 |
| work_keys_str_mv |
AT jgordonmillichap hereditarymotorandsensoryneuropathymutation |
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