Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit (Q67482959)

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13 September 2019

title

Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit (English)

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13 September 2019

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13 September 2019

Pentao L

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13 September 2019

Wise CA

series ordinal

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13 September 2019

Chinault AC

series ordinal

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13 September 2019

Lupski JR

series ordinal

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13 September 2019

publication date

1 December 1992

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13 September 2019

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13 September 2019

volume

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13 September 2019

issue

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13 September 2019

page(s)

292-300

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Hereditary motor and sensory neuropathies

13 September 2019

cites work

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Genetic and clinical aspects of Charcot-Marie-Tooth's disease

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Molecular genetics and neuropathology of Charcot-Marie-Tooth disease type 1A

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DNA duplication associated with Charcot-Marie-Tooth disease type 1A

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Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a)

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A genetic map of human chromosome 17p

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Charcot-Marie-Tooth disease type 1a (CMT1a): evidence for trisomy of the region p11.2 of chromosome 17 in south Wales families

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7 January 2021

Duplication of part of chromosome 17 is commonly associated with hereditary motor and sensory neuropathy type I (Charcot-Marie-Tooth disease type 1)

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7 January 2021

Stable inheritance of the CMT1A DNA duplication in two patients with CMT1 and NF1

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7 January 2021

De-novo mutation in hereditary motor and sensory neuropathy type I.

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7 January 2021

Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A

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7 January 2021

Trembler mouse carries a point mutation in a myelin gene

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A leucine-to-proline mutation in the putative first transmembrane domain of the 22-kDa peripheral myelin protein in the trembler-J mouse

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7 January 2021

Characterization of a novel peripheral nervous system myelin protein (PMP-22/SR13)

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Hereditary demyelinating neuropathy in the Trembler mouse

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Hereditary hypertrophic neuropathy in the trembler mouse. Part 1. Histopathological studies: light microscopy

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Hereditary hypertrophic neuropathy in the trembler mouse. Part 2. Histopathological studies: electron microscopy

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7 January 2021

Hypertrophic Charcot-Marie-Tooth disease. Light and electron microscope studies of the sural nerve

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7 January 2021

Refractory period, conduction of trains of impulses, and effect of temperature on conduction in chronic hypertrophic neuropathy

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7 January 2021

The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A

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7 January 2021

The peripheral myelin gene PMP-22/GAS-3 is duplicated in Charcot-Marie-Tooth disease type 1A

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7 January 2021

The peripheral myelin protein gene PMP-22 is contained within the Charcot-Marie-Tooth disease type 1A duplication

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7 January 2021

Peripheral myelin protein-22 gene maps in the duplication in chromosome 17p11.2 associated with Charcot-Marie-Tooth 1A.

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7 January 2021

Cloning of large segments of exogenous DNA into yeast by means of artificial chromosome vectors

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7 January 2021

Isolation of single-copy human genes from a library of yeast artificial chromosome clones

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7 January 2021

Construction and characterization of a yeast artificial chromosome library containing seven haploid human genome equivalents

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7 January 2021

Somatic cell hybrids, sequence-tagged sites, simple repeat polymorphisms, and yeast artificial chromosomes for physical and genetic mapping of proximal 17p

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7 January 2021

Estimation of the size of the chromosome 17p11.2 duplication in Charcot-Marie-Tooth neuropathy type 1a (CMT1a). HMSN Collaborative Research Group

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7 January 2021

Regional mapping panel for human chromosome 17: application to neurofibromatosis type 1.

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7 January 2021

Partial gene duplication as a cause of human disease

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7 January 2021

Frequent deletions of the human X chromosome distal short arm result from recombination between low copy repetitive elements

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7 January 2021

Two families of low-copy-number repeats are interspersed on Xp22.3: Implications for the high frequency of deletions in this region

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7 January 2021

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7 January 2021

Molecular genetics of human blue cone monochromacy

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Discordance of muscular dystrophy in monozygotic female twins: Evidence supporting asymmetric splitting of the inner cell mass in a manifesting carrier of Duchenne dystrophy

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7 January 2021

Rapid identification of yeast artificial chromosome clones by matrix pooling and crude lysate PCR.

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7 January 2021

Alu polymerase chain reaction: a method for rapid isolation of human-specific sequences from complex DNA sources

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7 January 2021

A novel, rapid method for the isolation of terminal sequences from yeast artificial chromosome (YAC) clones

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7 January 2021

Vector-Alu PCR: a rapid step in mapping cosmids and YACs

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7 January 2021

A map of the distal region of the long arm of human chromosome 21 constructed by radiation hybrid mapping and pulsed-field gel electrophoresis

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7 January 2021

Identifiers

DOI

10.1038/NG1292-292

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1303282%20AND%20SRC:MED&resulttype=core&format=json

13 September 2019

1 reference

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