Germ line origins of de novo mutations in hemophilia B families (Q45872056)

17 December 2017

title

Germ line origins of de novo mutations in hemophilia B families (English)

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A R Thompson

1

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S H Chen

series ordinal

2

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publication date

1 September 1994

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published in

Human Genetics

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volume

94

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issue

3

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page(s)

299-302

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Diagnostic role of an immunoassay-detected polymorphism of factor IX for potential carriers of hemophilia B.

cites work

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12 December 2020

The occurrence of new mutants in the X-linked recessive Lesch-Nyhan disease

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12 December 2020

Parental origin of factor IX gene mutations, and their distribution in the gene

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12 December 2020

Recurrent mutations in the factor IX gene: founder effect or repeat de novo events. Investigation of the German haemophilia B population and review of de novo mutations

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12 December 2020

Origin of mutation in sporadic cases of haemophilia-B

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12 December 2020

CG dinucleotide transitions in the factor IX gene account for about half of the point mutations in hemophilia B patients: a Seattle series

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12 December 2020

Germ-line origins of mutation in families with hemophilia B: the sex ratio varies with the type of mutation

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12 December 2020

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

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12 December 2020

Recurrent nonsense mutations at arginine residues cause severe hemophilia B in unrelated hemophiliacs

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12 December 2020

Five novel factor IX mutations in unrelated hemophilia B families

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12 December 2020

Nucleotide sequence of the gene for human factor IX (antihemophilic factor B)

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12 December 2020

A de novo intragenic deletion of the potential EGF domain of the factor IX gene in a family with severe hemophilia B.

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12 December 2020

Point mutations in four hemophilia B patients from China

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A polymorphic MseI site 5' to the factor IX gene varies among ethnic groups

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12 December 2020

Molecular biology of the hemophilias

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12 December 2020

Haemophilia B due to a de novo insertion of a human-specific Alu subfamily member within the coding region of the factor IX gene

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12 December 2020

Haemophilia B: database of point mutations and short additions and deletions--fourth edition, 1993

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12 December 2020

Factor IX mutations: rapid, direct screening methods for 20 new families with hemophilia B

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12 December 2020

Hemophilia B in a male with a four-base insertion that arose in the germline of his mother

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12 December 2020

DNA analysis of seven patients with hemophilia B who have anti-factor IX antibodies: relationship to clinical manifestations and evidence that the abnormal gene was inherited

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12 December 2020

Identifiers

DOI

10.1007/BF00208288

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17 December 2017

Dimensions Publication ID

1023289851

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17 December 2017