A gene for congenital, recessive deafness DFNB3 maps to the pericentromeric region of chromosome 17. (Q34307634)

1 August 2017

A gene for congenital, recessive deafness DFNB3 maps to the pericentromeric region of chromosome 17. (English)

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1 August 2017

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Friedman TB

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Liang Y

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Weber JL

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Hinnant JT

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Barber TD

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Winata S

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Arhya IN

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Asher JH Jr

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language of work or name

English

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publication date

1 January 1995

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1 August 2017

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9

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1

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1 August 2017

86-91

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https://scigraph.springernature.com/pub.10.1038/ng0195-86

1 August 2017

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cites work

Autosomal recessive nonsyndromal profound childhood deafness in a large pedigree. Audiometric features of the affected persons and the obligate carriers

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Genetics of Congenital Deafness

21 January 2018

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Hereditary deaf mutism, with particular reference to Northern Ireland

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Estimated number of loci for autosomal recessive severe nerve deafness within the Israeli Jewish population, with implications for genetic counseling

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Mutation of human short tandem repeats

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Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children

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7 January 2021

Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in Finland

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

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7 January 2021

Relationship between Charcot-Marie-Tooth 1A and Smith-Magenis regions. snU3 may be a candidate gene for the Smith-Magenis syndrome

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7 January 2021

DNA deletion associated with hereditary neuropathy with liability to pressure palsies

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7 January 2021

Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene

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7 January 2021

Charcot-Marie-Tooth Disease Type 1A -- Association with a Spontaneous Point Mutation in the PMP22 Gene

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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

A non-syndrome form of neurosensory, recessive deafness maps to the pericentromeric region of chromosome 13q.

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7 January 2021

A human gene responsible for neurosensory, non-syndromic recessive deafness is a candidate homologue of the mouse sh-1 gene

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7 January 2021

A myelin protein is encoded by the homologue of a growth arrest-specific gene

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7 January 2021

Trembler mouse carries a point mutation in a myelin gene

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7 January 2021

Integrated human genome-wide maps constructed using the CEPH reference panel.

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7 January 2021

High-density genetic map of the BRCA1 region of chromosome 17q12-q21

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7 January 2021

A radiation hybrid map of the BRCA1 region of chromosome 17q12-q21

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7 January 2021

Multicolor FISH mapping with Alu-PCR-amplified YAC clone DNA determines the order of markers in the BRCA1 region on chromosome 17q12-q21

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7 January 2021

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7 January 2021

Chromosome-specific microsatellite sets for fluorescence-based, semi-automated genome mapping

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7 January 2021

Identifiers

DOI

10.1038/NG0195-86

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Dimensions Publication ID

1 August 2017

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