X-Linked Agammaglobulinemia Case with TH Domain Missense Mutation in Bruton Tyrosine Kinase

to related objects

Location: Deutsche Nationalbibliothek Frankfurt am Main

ISSN: 1573-2592

Extent: Online-Ressource

Language: Englisch

Notes: online resource.

Bibliographic citation: X-Linked Agammaglobulinemia Case with TH Domain Missense Mutation in Bruton Tyrosine Kinase ; day:27 ; month:1 ; year:2021 ; pages:1-4
Journal of clinical immunology ; (27.1.2021), 1-4

Creator: Agrebi, Nourhen
Gentilcore, Giusy
Grivel, Jean-Charles
Alkhayer, Ghroob
Hassoun, Jihad
Hassan, Amel
Adeli, Mehdi
Lo, Bernice

Contributor: SpringerLink (Online service)

DOI: 10.1007/s10875-020-00962-9

URN: urn:nbn:de:101:1-2021031721115574756293

Rights: Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 15.08.2025, 7:32 AM CEST

Data provider

This object is provided by:
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.

Show original at data provider

Associated

Agrebi, Nourhen
Gentilcore, Giusy
Grivel, Jean-Charles
Alkhayer, Ghroob
Hassoun, Jihad
Hassan, Amel
Adeli, Mehdi
Lo, Bernice
SpringerLink (Online service)

Other Objects (12)

A novel Bruton’s tyrosine kinase gene (BTK) missense mutation in a Chinese family with X-linked agammaglobulinemia

Discovery of oncogenic ROS1 missense mutations with sensitivity to tyrosine kinase inhibitors

Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions

Easily misdiagnosed X-linked adrenoleukodystrophy

X-linked disorders with cerebellar dysgenesis

Pathogenicity of missense variants affecting the collagen IV α5 carboxy non-collagenous domain in X-linked Alport syndrome

X-linked SCID with a rare mutation

X-linked myotubular myopathy in Rottweiler dogs is caused by a missense mutation in Exon 11 of the MTM1 gene

Prune belly syndrome in surviving males can be caused by Hemizygous missense mutations in the X-linked Filamin A gene

X-linked Hyper-IgM Syndrome with Bronchiectasis

X-Linked Retinitis Pigmentosa Gene Therapy: Preclinical Aspects

Hochschulschrift

Molecular genetic mechanisms surrounding x-linked Dystonia-Parkinsonism

A novel Bruton’s tyrosine kinase gene (BTK) missense mutation in a Chinese family with X-linked agammaglobulinemia

Discovery of oncogenic ROS1 missense mutations with sensitivity to tyrosine kinase inhibitors

Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions

Easily misdiagnosed X-linked adrenoleukodystrophy

X-linked disorders with cerebellar dysgenesis

Pathogenicity of missense variants affecting the collagen IV α5 carboxy non-collagenous domain in X-linked Alport syndrome

X-linked SCID with a rare mutation

X-linked myotubular myopathy in Rottweiler dogs is caused by a missense mutation in Exon 11 of the MTM1 gene

Prune belly syndrome in surviving males can be caused by Hemizygous missense mutations in the X-linked Filamin A gene

X-linked Hyper-IgM Syndrome with Bronchiectasis

X-Linked Retinitis Pigmentosa Gene Therapy: Preclinical Aspects

Hochschulschrift

Molecular genetic mechanisms surrounding x-linked Dystonia-Parkinsonism

A novel Bruton’s tyrosine kinase gene (BTK) missense mutation in a Chinese family with X-linked agammaglobulinemia

Discovery of oncogenic ROS1 missense mutations with sensitivity to tyrosine kinase inhibitors

Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions

Easily misdiagnosed X-linked adrenoleukodystrophy

X-linked disorders with cerebellar dysgenesis

Pathogenicity of missense variants affecting the collagen IV α5 carboxy non-collagenous domain in X-linked Alport syndrome

X-linked SCID with a rare mutation

X-linked myotubular myopathy in Rottweiler dogs is caused by a missense mutation in Exon 11 of the MTM1 gene

Prune belly syndrome in surviving males can be caused by Hemizygous missense mutations in the X-linked Filamin A gene

X-linked Hyper-IgM Syndrome with Bronchiectasis

X-Linked Retinitis Pigmentosa Gene Therapy: Preclinical Aspects

Hochschulschrift

Molecular genetic mechanisms surrounding x-linked Dystonia-Parkinsonism

Cultural heritage institutions wishing to register will find more information here.

Fields marked * need to be filled in.

Username*

Please enter your username

Email*

Please enter your email address

Please do not fill this field

First name

Last name

Password*

Please enter your password

Confirm password*

Please enter the same password

I have read the terms of use and the privacy policy for the collection of personal data and accept them. *

This field is required.

I would like to subscribe to the newsletter of the Deutsche Digitale Bibliothek. See newsletter subscription info.

Account created

Your "My DDB" account has been successfully created. Before you can log in to your account, you must click the confirmation link in the message we just sent to the email address you provided.

X-Linked Agammaglobulinemia Case with TH Domain Missense Mutation in Bruton Tyrosine Kinase

Object Details

References and Relationships

Contributors, Places and Time

Further information

Data provider

Associated

Other Objects (12)

A novel Bruton’s tyrosine kinase gene (BTK) missense mutation in a Chinese family with X-linked agammaglobulinemia

Discovery of oncogenic ROS1 missense mutations with sensitivity to tyrosine kinase inhibitors

Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions

Easily misdiagnosed X-linked adrenoleukodystrophy

X-linked disorders with cerebellar dysgenesis

Pathogenicity of missense variants affecting the collagen IV α5 carboxy non-collagenous domain in X-linked Alport syndrome

X-linked SCID with a rare mutation

X-linked myotubular myopathy in Rottweiler dogs is caused by a missense mutation in Exon 11 of the MTM1 gene

Prune belly syndrome in surviving males can be caused by Hemizygous missense mutations in the X-linked Filamin A gene

X-linked Hyper-IgM Syndrome with Bronchiectasis

X-Linked Retinitis Pigmentosa Gene Therapy: Preclinical Aspects

Molecular genetic mechanisms surrounding x-linked Dystonia-Parkinsonism

A novel Bruton’s tyrosine kinase gene (BTK) missense mutation in a Chinese family with X-linked agammaglobulinemia

Discovery of oncogenic ROS1 missense mutations with sensitivity to tyrosine kinase inhibitors

Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions

Easily misdiagnosed X-linked adrenoleukodystrophy

X-linked disorders with cerebellar dysgenesis

Pathogenicity of missense variants affecting the collagen IV α5 carboxy non-collagenous domain in X-linked Alport syndrome

X-linked SCID with a rare mutation

X-linked myotubular myopathy in Rottweiler dogs is caused by a missense mutation in Exon 11 of the MTM1 gene

Prune belly syndrome in surviving males can be caused by Hemizygous missense mutations in the X-linked Filamin A gene

X-linked Hyper-IgM Syndrome with Bronchiectasis

X-Linked Retinitis Pigmentosa Gene Therapy: Preclinical Aspects

Molecular genetic mechanisms surrounding x-linked Dystonia-Parkinsonism

A novel Bruton’s tyrosine kinase gene (BTK) missense mutation in a Chinese family with X-linked agammaglobulinemia

Discovery of oncogenic ROS1 missense mutations with sensitivity to tyrosine kinase inhibitors

Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions

Easily misdiagnosed X-linked adrenoleukodystrophy

X-linked disorders with cerebellar dysgenesis

Pathogenicity of missense variants affecting the collagen IV α5 carboxy non-collagenous domain in X-linked Alport syndrome

X-linked SCID with a rare mutation

X-linked myotubular myopathy in Rottweiler dogs is caused by a missense mutation in Exon 11 of the MTM1 gene

Prune belly syndrome in surviving males can be caused by Hemizygous missense mutations in the X-linked Filamin A gene

X-linked Hyper-IgM Syndrome with Bronchiectasis

X-Linked Retinitis Pigmentosa Gene Therapy: Preclinical Aspects

Molecular genetic mechanisms surrounding x-linked Dystonia-Parkinsonism

Related objects

Reset password