(Q33862051)

29 July 2017

title

Molybdenum cofactor deficiency: first prenatal genetic analysis (English)

1 reference

molybdenum cofactor deficiency

29 July 2017

main subject

1 reference

Reiss J

1

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29 July 2017

Christensen E

series ordinal

2

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29 July 2017

Dorche C

series ordinal

3

1 reference

29 July 2017

publication date

1 April 1999

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29 July 2017

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29 July 2017

volume

19

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29 July 2017

issue

4

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29 July 2017

page(s)

386-388

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Prenatal diagnosis of molybdenum cofactor deficiency by assay of sulphite oxidase activity in chorionic villus samples

29 July 2017

cites work

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-0223%28199904%2919%3A4%3C386%3A%3AAID-PD550%3E3.0.CO%3B2-%23

The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-0223%28199904%2919%3A4%3C386%3A%3AAID-PD550%3E3.0.CO%3B2-%23

Mutations in a polycistronic nuclear gene associated with molybdenum cofactor deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-0223%28199904%2919%3A4%3C386%3A%3AAID-PD550%3E3.0.CO%3B2-%23

Genomic structure and mutational spectrum of the bicistronic MOCS1 gene defective in molybdenum cofactor deficiency type A

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-0223%28199904%2919%3A4%3C386%3A%3AAID-PD550%3E3.0.CO%3B2-%23

Localization of a gene for molybdenum cofactor deficiency, on the short arm of chromosome 6, by homozygosity mapping

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-0223%28199904%2919%3A4%3C386%3A%3AAID-PD550%3E3.0.CO%3B2-%23

10.1002/(SICI)1097-0223(199904)19:4<386::AID-PD550>3.0.CO;2-#

21 January 2018

Identifiers

DOI

1 reference

29 July 2017

1 reference