Estimation of carrier frequencies of six autosomal-recessive Mendelian disorders in the Korean population. (Q34101472)

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18 January 2020

title

Estimation of carrier frequencies of six autosomal-recessive Mendelian disorders in the Korean population (English)

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18 January 2020

6

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18 January 2020

author name string

Min-Jung Song

1

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18 January 2020

Seung-Tae Lee

2

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18 January 2020

Mi-Kyung Lee

3

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18 January 2020

Yongick Ji

4

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18 January 2020

Jong-Won Kim

5

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publication date

15 December 2011

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Journal of Human Genetics

18 January 2020

published in

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18 January 2020

volume

57

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issue

2

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18 January 2020

page(s)

139-144

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https://scigraph.springernature.com/pub.10.1038/jhg.2011.144

18 January 2020

exact match

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cites work

Mendelian disorders deserve more attention

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.144

Population programs for the detection of couples at risk for severe monogenic genetic diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.144

Fragile X-associated tremor/ataxia syndrome: clinical phenotype, diagnosis, and treatment

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1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.144

The association between mutations in the lysosomal protein glucocerebrosidase and parkinsonism

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1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.144

Connexin26 mutations associated with nonsyndromic hearing loss.

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1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.144

Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness

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1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.144

Mutation spectrum of the glucose-6-phosphatase gene and its implication in molecular diagnosis of Korean patients with glycogen storage disease type Ia.

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1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.144

Mutation analysis of PAH gene and characterization of a recurrent deletion mutation in Korean patients with phenylketonuria

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1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.144

Carrier frequency of the R778L, A874V, and N1270S mutations in the ATP7B gene in a Korean population.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.144

Detecting polymorphisms and mutations in candidate genes

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1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.144

The pathophysiology and genetics of congenital lipoid adrenal hyperplasia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.144

Estimation of Wilson's disease incidence and carrier frequency in the Korean population by screening ATP7B major mutations in newborn filter papers using the SYBR green intercalator method based on the amplification refractory mutation system.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.144

Carrier frequency of GJB2 (connexin-26) mutations causing inherited deafness in the Korean population

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.144

Molecular genetics of hearing loss

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1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.144

A genetic approach to understanding auditory function

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.144

Sensorineural hearing loss in children.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.144

Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: a unique spectrum of mutations in Japanese

21 January 2018

1 reference

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Prevalent connexin 26 gene (GJB2) mutations in Japanese

21 January 2018

1 reference

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GJB2 gene mutations in newborns with non-syndromic hearing impairment in Northern China.

21 January 2018

1 reference

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The prevalence of the 235delC GJB2 mutation in a Chinese deaf population.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.144

Genetics of congenital hypothyroidism

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.144

T-->A transversion 11 bp from a splice acceptor site in the human gene for steroidogenic acute regulatory protein causes congenital lipoid adrenal hyperplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.144

Molecular and clinical characterization of Korean patients with congenital lipoid adrenal hyperplasia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.144

High-throughput killer cell immunoglobulin-like receptor genotyping by MALDI-TOF mass spectrometry with discovery of novel alleles

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1 reference

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Genetic screening for reproductive purposes at school: is it a good strategy?

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1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.144

7 January 2021

Carrier frequency of autosomal-recessive disorders in the Ashkenazi Jewish population: should the rationale for mutation choice for screening be reevaluated?

1 reference

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Identification of novel ATP7B gene mutations and their functional roles in Korean patients with Wilson disease

1 reference

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GJB2 deafness gene shows a specific spectrum of mutations in Japan, including a frequent founder mutation.

1 reference

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7 January 2021

Congenital hypothyroidism

1 reference

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Novel TSHR mutations in consanguineous families with congenital nongoitrous hypothyroidism

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7 January 2021

TSHR mutations as a cause of congenital hypothyroidism in Japan: a population-based genetic epidemiology study

1 reference

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Genetics and phenomics of hypothyroidism due to TSH resistance.

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The suitability of matrix assisted laser desorption/ionization time of flight mass spectrometry in a laboratory developed test using cystic fibrosis carrier screening as a model

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Identifiers

DOI

10.1038/JHG.2011.144

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22170460%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

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