SLC16A2 mutations in two Japanese patients with Allan-Herndon-Dudley syndrome.

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Novel SLC16A2 mutations in patients with Allan-Herndon-Dudley syndrome.Novel A178P mutation in SLC16A2 in a patient with Allan-Herndon-Dudley syndrome.

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SLC16A2 mutations in two Japanese patients with Allan-Herndon-Dudley syndrome.

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2014 nî lūn-bûn

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2014年の論文

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2014年論文

@yue

2014年論文

@zh-hant

2014年論文

@zh-hk

2014年論文

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2014年論文

@zh-tw

2014年论文

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2014年论文

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2014年论文

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SLC16A2 mutations in two Japanese patients with Allan-Herndon-Dudley syndrome.

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SLC16A2 mutations in two Japanese patients with Allan-Herndon-Dudley syndrome.

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type

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SLC16A2 mutations in two Japanese patients with Allan-Herndon-Dudley syndrome.

@ast

SLC16A2 mutations in two Japanese patients with Allan-Herndon-Dudley syndrome.

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SLC16A2 mutations in two Japanese patients with Allan-Herndon-Dudley syndrome.

@ast

SLC16A2 mutations in two Japanese patients with Allan-Herndon-Dudley syndrome.

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P1476

SLC16A2 mutations in two Japanese patients with Allan-Herndon-Dudley syndrome.

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Ayako Umemura

http://www.w3.org/2001/XMLSchema#string

Keiko Shimojima

http://www.w3.org/2001/XMLSchema#string

Ken Inoue

http://www.w3.org/2001/XMLSchema#string

Tojo Nakayama

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P2860

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The monocarboxylate transporter 8 linked to human psychomotor retardation is highly expressed in thyroid hormone-sensitive neuron populations.

Pelizaeus-Merzbacher-Like disease presentation of MCT8 mutated male subjects.

Genotype-phenotype relationship in patients with mutations in thyroid hormone transporter MCT8.

Genetics and phenomics of thyroid hormone transport by MCT8.

Functional analysis of monocarboxylate transporter 8 mutations identified in patients with X-linked psychomotor retardation and elevated serum triiodothyronine.

White matter abnormalities and dystonic motor disorder associated with mutations in the SLC16A2 gene.

Extended clinical phenotype, endocrine investigations and functional studies of a loss-of-function mutation A150V in the thyroid hormone specific transporter MCT8.

A novel monocarboxylate transporter 8 gene mutation as a cause of severe neonatal hypotonia and developmental delay.

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hgv.2014.10

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scholarly article

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10.1038/HGV.2014.10

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http://www.w3.org/2001/XMLSchema#string

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Mitsugu Uematsu

Toshiyuki Yamamoto

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2014-10-09T00:00:00Z

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290097364

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27081503

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P932

4785542

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SLC16A2 mutations in two Japanese patients with Allan-Herndon-Dudley syndrome.

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P2860

P2860

SLC16A2 mutations in two Japanese patients with Allan-Herndon-Dudley syndrome.

description

name

type

label

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P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P478

P50

P577

P5875

P698

P932

P356

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P478

P50

P577

P5875

P698

P932