Identification of two novel mutations in the GALNT3 gene in a Chinese family with hyperphosphatemic familial tumoral calcinosis.

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Identification of two novel mutations in the GALNT3 gene in a Chinese family with hyperphosphatemic familial tumoral calcinosis.

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http://www.wikidata.org/entity/Q37401244

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2016 nî lūn-bûn

@nan

2016年の論文

@ja

2016年学术文章

@wuu

2016年学术文章

@zh-cn

2016年学术文章

@zh-hans

2016年学术文章

@zh-my

2016年学术文章

@zh-sg

2016年學術文章

@yue

2016年學術文章

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2016年學術文章

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name

Identification of two novel mu ...... c familial tumoral calcinosis.

@en

Identification of two novel mu ...... c familial tumoral calcinosis.

@nl

type

Item

label

Identification of two novel mu ...... c familial tumoral calcinosis.

@en

Identification of two novel mu ...... c familial tumoral calcinosis.

@nl

prefLabel

Identification of two novel mu ...... c familial tumoral calcinosis.

@en

Identification of two novel mu ...... c familial tumoral calcinosis.

@nl

P1476

Identification of two novel mu ...... c familial tumoral calcinosis.

@en

P2093

Bei Tao

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Hongyan Zhao

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Jianmin Liu

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Lei Ye

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Lianjun Du

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Lihao Sun

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Lin Zhao

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Min Li

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Minjia Zhang

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Peipei Zhang

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P2860

Polypeptide GalNAc-transferase T3 and familial tumoral calcinosis. Secretion of fibroblast growth factor 23 requires O-glycosylation

Miscellaneous non-inflammatory musculoskeletal conditions. Hyperphosphatemic familial tumoral calcinosis (FGF23, GALNT3 and αKlotho)

A method and server for predicting damaging missense mutations

Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis

Tumoral calcinosis presenting with eyelid calcifications due to novel missense mutations in the glycosyl transferase domain of the GALNT3 gene

Two novel nonsense mutations in GALNT3 gene are responsible for familial tumoral calcinosis

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

MutationTaster evaluates disease-causing potential of sequence alterations

Hyperostosis-hyperphosphatemia syndrome: a congenital disorder of O-glycosylation associated with augmented processing of fibroblast growth factor 23.

Long-term clinical outcome and phenotypic variability in hyperphosphatemic familial tumoral calcinosis and hyperphosphatemic hyperostosis syndrome caused by a novel GALNT3 mutation; case report and review of the literature.

P2888

boneres.2016.38

P304

16038

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scholarly article

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10.1038/BONERES.2016.38

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P478

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P577

2016-11-08T00:00:00Z

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P6179

1044604394

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27867679

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P921

hyperphosphatemic familial tumoral calcinosis

P932

5100662

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