Further expansion of the phenotypic spectrum associated with mutations in ALDH18A1, encoding Δ¹-pyrroline-5-carboxylate synthase (P5CS). (Q55054634)

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7 February 2020

title

Further expansion of the phenotypic spectrum associated with mutations in ALDH18A1, encoding Δ¹-pyrroline-5-carboxylate synthase (P5CS) (English)

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7 February 2020

author

Björn Fischer-Zirnsak

5

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7 February 2020

Stephen Robertson

13

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7 February 2020

author name string

David L Skidmore

1

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7 February 2020

David Chitayat

2

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Tim Morgan

3

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7 February 2020

Alek Hinek

4

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7 February 2020

Aikaterini Dimopoulou

6

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7 February 2020

Gino Somers

7

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7 February 2020

William Halliday

8

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7 February 2020

Susan Blaser

9

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7 February 2020

Yenge Diambomba

10

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Edmond G Lemire

11

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Uwe Kornak

12

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language of work or name

English

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publication date

7 July 2011

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American Journal of Medical Genetics

7 February 2020

published in

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volume

155A

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7 February 2020

page(s)

1848-1856

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7 February 2020

issue

8

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Enhanced survival of vascular smooth muscle cells accounts for heightened elastin deposition in arteries of neonatal spontaneously hypertensive rats

7 February 2020

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34057

Hyperammonemia with reduced ornithine, citrulline, arginine and proline: a new inborn error caused by a mutation in the gene encoding delta(1)-pyrroline-5-carboxylate synthase

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34057

Delta1-pyrroline-5-carboxylate synthase deficiency: neurodegeneration, cataracts and connective tissue manifestations combined with hyperammonaemia and reduced ornithine, citrulline, arginine and proline

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34057

A missense mutation in ALDH18A1, encoding Delta1-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34057

Mutation in pyrroline-5-carboxylate reductase 1 gene in families with cutis laxa type 2

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34057

Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34057

Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34057

New lethal disease involving type I and III collagen defect resembling geroderma osteodysplastica, De Barsy syndrome, and Ehlers-Danlos syndrome IV

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34057

Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34057

Autosomal recessive cutis laxa syndrome revisited

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34057

Mutations in PYCR1 cause cutis laxa with progeroid features

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34057

21 January 2018

Identifiers

DOI

10.1002/AJMG.A.34057

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7 February 2020

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