(Q73123839)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9056557%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

title

Familial lethal inheritance of a mutated paternal gene in females causing X-linked ornithine transcarbamylase (OTC) deficiency (English)

1 reference

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1 November 2019

author name string

S Komaki

1

1 reference

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1 November 2019

T Matsuura

2

1 reference

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1 November 2019

K Oyanagi

3

1 reference

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1 November 2019

R Hoshide

4

1 reference

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1 November 2019

K Kiwaki

5

1 reference

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1 November 2019

F Endo

6

1 reference

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1 November 2019

M Shimadzu

7

1 reference

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1 November 2019

I Matsuda

8

1 reference

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1 November 2019

publication date

1 March 1997

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9056557%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Medical Genetics Part A

1 November 2019

published in

1 reference

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1 November 2019

volume

69

1 reference

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1 November 2019

issue

2

1 reference

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1 November 2019

page(s)

177-181

1 reference

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Somatic origin of inherited haemophilia A.

1 November 2019

cites work

1 reference

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Germline and somatic mosaicism in a female carrier of Duchenne muscular dystrophy

21 January 2018

1 reference

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A novel missense mutation in exon 8 of the ornithine transcarbamylase gene in two unrelated male patients with mild ornithine transcarbamylase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970317%2969%3A2%3C177%3A%3AAID-AJMG12%3E3.0.CO%3B2-I

Skewed X-inactivation in a tumor tissue from a female patient with leiomyomatosis

21 January 2018

1 reference

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An arginine to glutamine mutation in residue 109 of human ornithine transcarbamylase completely abolishes enzymatic activity in Cos1 cells

21 January 2018

1 reference

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Sporadic late onset ornithine transcarbamylase deficiency in a boy with somatic mosaicism for an intragenic deletion

21 January 2018

1 reference

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X-chromosome inactivation and developmental patterns in mammals

21 January 2018

1 reference

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Mosaicism for an intragenic deletion in a boy with mild ornithine transcarbamylase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970317%2969%3A2%3C177%3A%3AAID-AJMG12%3E3.0.CO%3B2-I

Mutation analysis and prenatal diagnosis in a Lesch-Nyhan family showing non-random X-inactivation interfering with carrier detection tests

21 January 2018

1 reference

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Retrospective survey of urea cycle disorders: Part 1. Clinical and laboratory observations of thirty-two Japanese male patients with ornithine transcarbamylase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970317%2969%3A2%3C177%3A%3AAID-AJMG12%3E3.0.CO%3B2-I

Four novel gene mutations in five Japanese male patients with neonatal or late onset OTC deficiency: application of PCR-single-strand conformation polymorphisms for all exons and adjacent introns [corrected].

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970317%2969%3A2%3C177%3A%3AAID-AJMG12%3E3.0.CO%3B2-I

Expression of four mutant human ornithine transcarbamylase genes in cultured Cos 1 cells relates to clinical phenotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970317%2969%3A2%3C177%3A%3AAID-AJMG12%3E3.0.CO%3B2-I

Expression vector system based on the chicken beta-actin promoter directs efficient production of interleukin-5.

21 January 2018

1 reference

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X-chromosome inactivation in the liver of female heterozygous OTC-deficient sparse-furash mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970317%2969%3A2%3C177%3A%3AAID-AJMG12%3E3.0.CO%3B2-I

Estimated frequency of urea cycle enzymopathies in Japan

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970317%2969%3A2%3C177%3A%3AAID-AJMG12%3E3.0.CO%3B2-I

Sex identification by polymerase chain reaction using X-Y homologous primer

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970317%2969%3A2%3C177%3A%3AAID-AJMG12%3E3.0.CO%3B2-I

X-linked Duchenne muscular dystrophy in an unusual family with manifesting carriers

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970317%2969%3A2%3C177%3A%3AAID-AJMG12%3E3.0.CO%3B2-I

Sex-determining region Y (SRY) in a patient with 46,XX true hermaphroditism

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970317%2969%3A2%3C177%3A%3AAID-AJMG12%3E3.0.CO%3B2-I

Somatic mosaicism and female-to-female transmission in a kindred with hemophilia B (factor IX deficiency).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970317%2969%3A2%3C177%3A%3AAID-AJMG12%3E3.0.CO%3B2-I

10.1002/(SICI)1096-8628(19970317)69:2<177::AID-AJMG12>3.0.CO;2-I

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9056557%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

1 reference