(Q54395478)

29 May 2018

title

ACVR1 (587T>C) mutation in a variant form of fibrodysplasia ossificans progressiva: second report. (English)

1 reference

29 May 2018

fibrodysplasia ossificans progressiva

main subject

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author name string

Y Nakahara

1

1 reference

29 May 2018

T Katagiri

2

1 reference

29 May 2018

N Ogata

3

1 reference

29 May 2018

N Haga

4

1 reference

29 May 2018

language of work or name

English

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publication date

20 November 2013

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29 May 2018

American Journal of Medical Genetics

published in

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29 May 2018

volume

164A

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29 May 2018

issue

1

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29 May 2018

page(s)

220-224

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29 May 2018

Late-onset variant fibrodysplasia ossificans progressiva leading to misdiagnosis of ankylosing spondylitis.

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36219

Mutational analysis of the ACVR1 gene in Italian patients affected with fibrodysplasia ossificans progressiva: confirmations and advancements.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36219

Mutational screening of ACVR1 gene in Brazilian fibrodysplasia ossificans progressiva patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36219

A novel ACVR1 mutation in the glycine/serine-rich domain found in the most benign case of a fibrodysplasia ossificans progressiva variant reported to date

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36219

Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36219

ACVR1 gene mutation in sporadic Korean patients with fibrodysplasia ossificans progressiva

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36219

A novel mutation of ALK2, L196P, found in the most benign case of fibrodysplasia ossificans progressiva activates BMP-specific intracellular signaling equivalent to a typical mutation, R206H.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36219

Novel mutations in ACVR1 result in atypical features in two fibrodysplasia ossificans progressiva patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36219

Rarely occurring mutation of ACVR1 gene in Moroccan patient with fibrodysplasia ossificans progressiva

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36219

A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36219

21 January 2018

Identifiers

DOI

10.1002/AJMG.A.36219

1 reference

29 May 2018

1 reference

29 May 2018