Desbuquois dysplasia type II in a patient with a homozygous mutation in XYLT1 and new unusual findings.

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What is new in CDG?Novel and recurrent XYLT1 mutations in two Turkish families with Desbuquois dysplasia, type 2.Endoplasmic reticulum retention of xylosyltransferase 1 (XYLT1) mutants underlying Desbuquois dysplasia type II

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Desbuquois dysplasia type II in a patient with a homozygous mutation in XYLT1 and new unusual findings.

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http://www.wikidata.org/entity/Q53058359

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2016 nî lūn-bûn

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2016年の論文

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2016年学术文章

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2016年学术文章

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2016年学术文章

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2016年学术文章

@zh-my

2016年学术文章

@zh-sg

2016年學術文章

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2016年學術文章

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2016年學術文章

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name

Desbuquois dysplasia type II i ...... YLT1 and new unusual findings.

@en

Desbuquois dysplasia type II i ...... YLT1 and new unusual findings.

@nl

type

Item

label

Desbuquois dysplasia type II i ...... YLT1 and new unusual findings.

@en

Desbuquois dysplasia type II i ...... YLT1 and new unusual findings.

@nl

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Desbuquois dysplasia type II i ...... YLT1 and new unusual findings.

@en

Desbuquois dysplasia type II i ...... YLT1 and new unusual findings.

@nl

P1476

Desbuquois dysplasia type II i ...... YLT1 and new unusual findings.

@en

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Cynthia Silveira

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

Denise P Cavalcanti

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

Gabriela F Leal

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Loss of chondroitin 6-O-sulfotransferase-1 function results in severe human chondrodysplasia with progressive spinal involvement

Human xylosyltransferases in health and disease.

Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders.

Identification of CANT1 mutations in Desbuquois dysplasia.

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3043-3047

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scholarly article

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10.1002/AJMG.A.37858

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English

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170

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2016-08-02T00:00:00Z

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P698

27481334

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Desbuquois dysplasia type II in a patient with a homozygous mutation in XYLT1 and new unusual findings.

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P2860

P2860

Desbuquois dysplasia type II in a patient with a homozygous mutation in XYLT1 and new unusual findings.

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type

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P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P577

P698

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P577

P698