Novel and recurrent XYLT1 mutations in two Turkish families with Desbuquois dysplasia, type 2.

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What is new in CDG?Identification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasia.Novel and recurrent COL11A1 and COL2A1 mutations in the Marshall-Stickler syndrome spectrum

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Novel and recurrent XYLT1 mutations in two Turkish families with Desbuquois dysplasia, type 2.

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http://www.wikidata.org/entity/Q51306697

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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

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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年學術文章

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2016年學術文章

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Novel and recurrent XYLT1 muta ...... Desbuquois dysplasia, type 2.

@en

Novel and recurrent XYLT1 muta ...... Desbuquois dysplasia, type 2.

@nl

type

Item

label

Novel and recurrent XYLT1 muta ...... Desbuquois dysplasia, type 2.

@en

Novel and recurrent XYLT1 muta ...... Desbuquois dysplasia, type 2.

@nl

prefLabel

Novel and recurrent XYLT1 muta ...... Desbuquois dysplasia, type 2.

@en

Novel and recurrent XYLT1 muta ...... Desbuquois dysplasia, type 2.

@nl

P1476

Novel and recurrent XYLT1 muta ...... Desbuquois dysplasia, type 2.

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Aritoshi Iida

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

Gen Nishimura

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

Long Guo

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

Naomichi Matsumoto

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

Noriko Miyake

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

Nursel H Elcioglu

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

Seda Aras

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

Shiro Ikegawa

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

Yasemin K Demirkol

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

Mutations responsible for Larsen syndrome cluster in the FLNB protein.

Identification of CANT1 mutations in Desbuquois dysplasia.

XYLT1 mutations in Desbuquois dysplasia type 2.

De novo EEF1A2 mutations in patients with characteristic facial features, intellectual disability, autistic behaviors and epilepsy.

Preparation of DNA ladder based on multiplex PCR technique.

CANT1 mutation is also responsible for Desbuquois dysplasia, type 2 and Kim variant.

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jhg.2016.143

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447-451

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scholarly article

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10.1038/JHG.2016.143

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2016-11-24T00:00:00Z

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27881841

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Novel and recurrent XYLT1 mutations in two Turkish families with Desbuquois dysplasia, type 2.

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P2860

P2860

Novel and recurrent XYLT1 mutations in two Turkish families with Desbuquois dysplasia, type 2.

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