Homozygous PIGT Mutation Lead to Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3.

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Homozygous PIGT Mutation Lead to Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3.

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2018 nî lūn-bûn

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2018年の論文

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2018年学术文章

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2018年学术文章

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2018年学术文章

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2018年学术文章

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2018年學術文章

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Homozygous PIGT Mutation Lead ...... Hypotonia Seizures Syndrome 3.

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Homozygous PIGT Mutation Lead ...... Hypotonia Seizures Syndrome 3.

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Homozygous PIGT Mutation Lead ...... Hypotonia Seizures Syndrome 3.

@en

Homozygous PIGT Mutation Lead ...... Hypotonia Seizures Syndrome 3.

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Homozygous PIGT Mutation Lead ...... Hypotonia Seizures Syndrome 3.

@en

Homozygous PIGT Mutation Lead ...... Hypotonia Seizures Syndrome 3.

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P1476

Homozygous PIGT Mutation Lead ...... Hypotonia Seizures Syndrome 3.

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P2093

Chen Chen

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

Fei Yin

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

Jing Peng

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

Li Yang

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

Nan Pang

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Teng-Hui Wu

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Xiao-Meng Yin

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Xiao-Min Zou

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P2860

Two subunits of glycosylphosphatidylinositol transamidase, GPI8 and PIG-T, form a functionally important intermolecular disulfide bridge

Mouse Genome Database (MGD)-2017: community knowledge resource for the laboratory mouse

Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders.

Solving glycosylation disorders: fundamental approaches reveal complicated pathways.

The nature of large noncovalent complexes containing glycosyl-phosphatidylinositol-anchored membrane glycoproteins and protein tyrosine kinases.

Novel PIGT Variant in Two Brothers: Expansion of the Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3 Phenotype.

A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT.

Expanding the clinical and molecular characteristics of PIGT-CDG, a disorder of glycosylphosphatidylinositol anchors.

CD14+CD16++ monocytes are increased in patients with NMO and are selectively suppressed by glucocorticoids therapy.

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153

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scholarly article

case report

P356

10.3389/FGENE.2018.00153

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P478

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

P577

2018-05-08T00:00:00Z

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P698

29868109

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P921

multiple congenital anomalies-hypotonia-seizures syndrome 3

P932

5951959

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