Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1.

about

Historical Perspective: Phosphatidylserine and Phosphatidylethanolamine from the 1800s to the Present.

P2860

Q52691331-319355F5-A6E3-4A60-A266-9934961DB1FF

P2860

Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1.

Item

http://www.wikidata.org/entity/Q52811635

description

2018 nî lūn-bûn

@nan

2018年の論文

@ja

2018年学术文章

@wuu

2018年学术文章

@zh

2018年学术文章

@zh-cn

2018年学术文章

@zh-hans

2018年学术文章

@zh-my

2018年学术文章

@zh-sg

2018年學術文章

@yue

2018年學術文章

@zh-hant

name

Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1.

@en

Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1.

@nl

type

Item

label

Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1.

@en

Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1.

@nl

prefLabel

Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1.

@en

Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1.

@nl

P1476

Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1.

@en

P2093

Frédérique Nugues

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

James Lespinasse

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

Lionel Van Maldergem

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

Marcela Malikova

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

Marion Lenoir

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

Marketa Vlckova

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

Martina Simandlova

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

Oliver Bartsch

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

Sorin Iurian

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

Stefan Mundlos

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

P275

Creative Commons Attribution

P2860

Altered TGFbeta signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency.

Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome.

Control of phosphatidylserine biosynthesis through phosphatidylserine-mediated inhibition of phosphatidylserine synthase I in Chinese hamster ovary cells.

The Genetics of Soft Connective Tissue Disorders.

Lenz-Majewski syndrome: Report of a case with novel mutation in PTDSS1 gene.

TGF-β Family Signaling in Connective Tissue and Skeletal Diseases.

Functional analysis of Chinese hamster phosphatidylserine synthase 1 through systematic alanine mutagenesis.

Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa.

Lenz-Majewski hyperostotic dwarfism with hyperphosphoserinuria from a novel mutation in PTDSS1 encoding phosphatidylserine synthase 1.

Lenz-Majewski hyperostotic dwarfism: reexamination of the original patient.

P304

668-675

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

P31

scholarly article

review article

P356

10.1002/AJMG.A.38604

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

P407

English

P433

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

P478

176

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

P50

P5008

ScienceSource

P577

2018-01-17T00:00:00Z

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

2018-03-01T00:00:00Z

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

P698

29341480

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

P921

P932

5838527

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

Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1.

about

P2860

P2860

Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1.

description

name

type

label

prefLabel

P1433

P1476

P2093

P275

P2860

P304

P31

P356

P407

P433

P478

P50

P5008

P577

P698

P921

P932

P356

P1433

P1476

P2093

P275

P2860

P304

P31

P356

P407

P433

P478

P50

P5008

P577

P698

P921

P932