(Q46597596)

English

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

scientific article published on 14 May 2008

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scholarly article

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18478038%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

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

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18478038%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

Stephen Robertson

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7 January 2020

Louise Bicknell

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Louise S Bicknell

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7 January 2020

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James Pitt

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7 January 2020

Salim Aftimos

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7 January 2020

Ram Ramadas

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7 January 2020

Marion A Maw

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7 January 2020

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14 May 2008

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7 January 2020

European Journal of Human Genetics

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7 January 2020

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7 January 2020

1176-1186

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7 January 2020

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7 January 2020

https://scigraph.springernature.com/pub.10.1038/ejhg.2008.91

0 references

Cutis laxa type II and wrinkly skin syndrome: distinct phenotypes

1 reference

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An elastin gene mutation producing abnormal tropoelastin and abnormal elastic fibres in a patient with autosomal dominant cutis laxa

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.91

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Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus

1 reference

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Fibulin-4: a novel gene for an autosomal recessive cutis laxa syndrome

1 reference

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21 January 2018

Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa

1 reference

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21 January 2018

Two forms of cutis laxa presenting in the newborn period

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.91

21 January 2018

Defective protein glycosylation in patients with cutis laxa syndrome.

1 reference

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21 January 2018

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

1 reference

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21 January 2018

Mutation of the COG complex subunit gene COG7 causes a lethal congenital disorder

1 reference

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21 January 2018

Gerodermia osteodysplastica and wrinkly skin syndrome: are they the same?

1 reference

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21 January 2018

Geroderma osteodysplastica. Report of a new family

1 reference

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21 January 2018

Wrinkly skin syndrome and the syndrome of cutis laxa with growth and developmental delay represent the same disorder.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.91

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.91

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.91

21 January 2018

Molecular enzymology of mammalian Delta1-pyrroline-5-carboxylate synthase. Alternative splice donor utilization generates isoforms with different sensitivity to ornithine inhibition

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.91

21 January 2018

Efficient multipoint linkage analysis through reduction of inheritance space

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.91

21 January 2018

The 1993-94 Généthon human genetic linkage map

1 reference

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SIFT: Predicting amino acid changes that affect protein function

1 reference

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21 January 2018

Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.91

21 January 2018

Genetic dissection of complex traits

1 reference

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21 January 2018

Moonlighting proteins.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.91

21 January 2018

Molecular mechanisms for multitasking: recent crystal structures of moonlighting proteins.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.91

21 January 2018

Single-gene disorders: what role could moonlighting enzymes play?

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.91

21 January 2018

Wrinkly skin syndrome: ultrastructural alterations of the elastic fibers

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.91

7 January 2021

based on heuristic

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The Wrinkly Skin Syndrome: a new heritable disorder of connective tissue

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.91

7 January 2021

based on heuristic

inferred from DOI database lookup

Biochemical, morphological and immunological findings in a patient with a cutis laxa-associated inborn disorder (De Barsy syndrome)

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.91

7 January 2021

based on heuristic

inferred from DOI database lookup

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