A 15-year-long Southern blotting analysis of FMR1 to detect female carriers and for prenatal diagnosis of fragile X syndrome in Taiwan.

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A 15-year-long Southern blotting analysis of FMR1 to detect female carriers and for prenatal diagnosis of fragile X syndrome in Taiwan.

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2017 nî lūn-bûn

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2017年の論文

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2017年学术文章

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2017年学术文章

@zh-cn

2017年学术文章

@zh-hans

2017年学术文章

@zh-my

2017年学术文章

@zh-sg

2017年學術文章

@yue

2017年學術文章

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2017年學術文章

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name

A 15-year-long Southern blotti ...... fragile X syndrome in Taiwan.

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label

A 15-year-long Southern blotti ...... fragile X syndrome in Taiwan.

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prefLabel

A 15-year-long Southern blotti ...... fragile X syndrome in Taiwan.

@en

P1476

A 15-year-long Southern blotti ...... f fragile X syndrome in Taiwan

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P2093

H-M Liang

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J-J Jiang

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L-P Tsai

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Y-J Hung

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Y-K Chang

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Y-P Su

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Y-Y Chang

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P2860

Implication of screening for FMR1 and FMR2 gene mutation in individuals with nonspecific mental retardation in Taiwan.

An information-rich CGG repeat primed PCR that detects the full range of fragile X expanded alleles and minimizes the need for southern blot analysis.

Expansion of an FMR1 grey-zone allele to a full mutation in two generations.

Prevalence and instability of fragile X alleles: implications for offering fragile X prenatal diagnosis.

Frequency of FMR1 premutation carriers and rate of expansion to full mutation in a retrospective diagnostic FMR1 Korean sample.

Fragile X carrier screening in Korean women of reproductive age.

ACMG Standards and Guidelines for fragile X testing: a revision to the disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics and Genomics.

Preconceptional and prenatal screening for fragile X syndrome: experience with 40,000 tests.

Prevalence of the FMR1 mutation in Taiwan assessed by large-scale screening of newborn boys and analysis of DXS548-FRAXAC1 haplotype.

Molecular fragile X screening in normal populations.

P304

217-220

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P31

scholarly article

P356

10.1111/CGE.12981

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P433

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P478

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P50

C-C Tzeng

P577

2017-03-19T00:00:00Z

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P698

28139839

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