Founder effect of the C9 R95X mutation in Orientals (Q47406870)

15 January 2018

title

Founder effect of the C9 R95X mutation in Orientals (English)

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15 January 2018

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Vahid Khajoee

1

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15 January 2018

Kenji Ihara

2

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15 January 2018

Ryutaro Kira

3

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15 January 2018

Megumi Takemoto

4

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15 January 2018

Hiroyuki Torisu

5

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Yasunari Sakai

6

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15 January 2018

Jia Guanjun

7

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15 January 2018

Park Myoung Hee

8

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15 January 2018

Katsushi Tokunaga

9

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Toshiro Hara

10

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15 January 2018

publication date

9 January 2003

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15 January 2018

published in

Human Genetics

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15 January 2018

volume

112

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issue

3

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15 January 2018

page(s)

244-248

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https://scigraph.springernature.com/pub.10.1007/s00439-002-0870-8

exact match

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The Fukuyama congenital muscular dystrophy story

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Complement-mediated lipopolysaccharide release and outer membrane damage in Escherichia coli J5: requirement for C9

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Delineation of additional genetic bases for C8 beta deficiency. Prevalence of null alleles and predominance of C-->T transition in their genesis.

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Characteristics of Mongoloid and neighboring populations based on the genetic markers of human immunoglobulins

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A comprehensive genetic map of the human genome based on 5,264 microsatellites

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The membrane attack complex of complement

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12 December 2020

High-incidence of C9 deficiency throughout Japan: there are no significant differences in incidence among eight areas of Japan

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12 December 2020

Genetic clues revise view of Japanese roots

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12 December 2020

A non-sense mutation at Arg95 is predominant in complement 9 deficiency in Japanese

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12 December 2020

Type I human complement C2 deficiency. A 28-base pair gene deletion causes skipping of exon 6 during RNA splicing

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12 December 2020

Genetic basis of human complement C8 beta deficiency

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12 December 2020

Molecular epidemiology of C9 deficiency heterozygotes with an Arg95Stop mutation of the C9 gene in Japan

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12 December 2020

A high incidence of C9 deficiency among healthy blood donors in Osaka, Japan

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12 December 2020

The 1993-94 Généthon human genetic linkage map

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12 December 2020

The human complement C9 gene: identification of two mutations causing deficiency and revision of the gene structure

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12 December 2020

Recurrent meningitis in a patient with congenital deficiency of the C9 component of complement. First case of C9 deficiency in Europe

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12 December 2020

Inherited deficiencies of the terminal components of human complement

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12 December 2020

Distribution of Gm and Km allotypes among five populations in China

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12 December 2020

Genetic origins of the Japanese: a partial support for the dual structure hypothesis

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12 December 2020

Meningococcal septicaemia in a C6-deficient patient and effects of plasma transfusion on lipopolysaccharide release.

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12 December 2020

Inherited deficiency of ninth component of complement: an increased risk of meningococcal meningitis

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12 December 2020

Complement deficiency states and infection: epidemiology, pathogenesis and consequences of neisserial and other infections in an immune deficiency

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12 December 2020

Nonsense mutation in exon 4 of human complement C9 gene is the major cause of Japanese complement C9 deficiency.

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12 December 2020

Founder effect of a prevalent phenylketonuria mutation in the Oriental population

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12 December 2020

The human complement C9 gene: structural analysis of the 5' gene region and genetic polymorphism studies

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12 December 2020

10.1007/S00439-002-0870-8

Identifiers

DOI

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PubMed ID

12596049

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15 January 2018