A missense mutation in ALDH18A1, encoding Delta1-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome. (Q46597596)

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scientific article published on 14 May 2008

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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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7 January 2020

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

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7 January 2020

Stephen Robertson

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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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Ram Ramadas

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Marion A Maw

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14 May 2008

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European Journal of Human Genetics

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1176-1186

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7 January 2020

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

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Two forms of cutis laxa presenting in the newborn period

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Defective protein glycosylation in patients with cutis laxa syndrome.

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

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

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

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Geroderma osteodysplastica. Report of a new family

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

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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

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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

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

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Efficient multipoint linkage analysis through reduction of inheritance space

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The 1993-94 Généthon human genetic linkage map

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SIFT: Predicting amino acid changes that affect protein function

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

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Genetic dissection of complex traits

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Moonlighting proteins.

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

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

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Wrinkly skin syndrome: ultrastructural alterations of the elastic fibers

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7 January 2021

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

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7 January 2021

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

1 reference

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7 January 2021

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