Hochschulschrift

Functional consequences of ε [epsilon] AChR subunit truncating mutations linked to congenital myasthenic syndrome

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Location: Deutsche Nationalbibliothek Frankfurt am Main

Extent: Online-Ressource

Language: Englisch

Notes: Bonn, Univ., Diss., 2005

Keyword: Orthopädie

Creator: Gurgui, Cristian

URN: urn:nbn:de:hbz:5N-05333

Rights: Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 15.08.2025, 7:21 AM CEST

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Hochschulschrift

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Gurgui, Cristian

Other Objects (12)

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Functional consequences of ε [epsilon] AChR subunit truncating mutations linked to congenital myasthenic syndrome

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X-linked congenital adrenal hypoplasia: a case presentation

Hochschulschrift

Functional consequences of ε [epsilon] AChR subunit truncating mutations linked to congenital myasthenic syndrome

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Point mutations rat 5 AChR [epsilon]- und [gamma]-subunit natural mutations BC3Hs/[epsilon]

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Lymphocyte-specific function of the DNA polymerase epsilon subunit Pole3

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AChR [gamma]-[epsilon] point mutations (draft, experiments)

Novel mutations in the RS1 gene in Japanese patients with X-linked congenital retinoschisis

Characterization of clinical phenotypes in congenital myasthenic syndrome associated with the c.1327delg frameshift mutation in chrne encoding the acetylcholine receptor epsilon subunit

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In situ: e [epsilon] subunit (draft, H. R. Brenner, für Developmental Biology)

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e-Ko article, PNAS, 1996;g-e-[gamma-epsilon] subunit switch Review, 2005.

Towards linked open gene mutations data

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Lymphocyte-specific function of the DNA polymerase epsilon subunit Pole3 revealed bynNeomorphic alleles

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[Epsilon]

X-linked congenital adrenal hypoplasia: a case presentation

Hochschulschrift

Functional consequences of ε [epsilon] AChR subunit truncating mutations linked to congenital myasthenic syndrome

Akten

Point mutations rat 5 AChR [epsilon]- und [gamma]-subunit natural mutations BC3Hs/[epsilon]

Hochschulschrift

Lymphocyte-specific function of the DNA polymerase epsilon subunit Pole3

Akten

AChR [gamma]-[epsilon] point mutations (draft, experiments)

Novel mutations in the RS1 gene in Japanese patients with X-linked congenital retinoschisis

Characterization of clinical phenotypes in congenital myasthenic syndrome associated with the c.1327delg frameshift mutation in chrne encoding the acetylcholine receptor epsilon subunit

Akten

In situ: e [epsilon] subunit (draft, H. R. Brenner, für Developmental Biology)

Akten

e-Ko article, PNAS, 1996;g-e-[gamma-epsilon] subunit switch Review, 2005.

Towards linked open gene mutations data

Hochschulschrift

Lymphocyte-specific function of the DNA polymerase epsilon subunit Pole3 revealed bynNeomorphic alleles

Abschnitt

[Epsilon]

X-linked congenital adrenal hypoplasia: a case presentation

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Functional consequences of ε [epsilon] AChR subunit truncating mutations linked to congenital myasthenic syndrome

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Other Objects (12)

Functional consequences of ε [epsilon] AChR subunit truncating mutations linked to congenital myasthenic syndrome

Point mutations rat 5 AChR [epsilon]- und [gamma]-subunit natural mutations BC3Hs/[epsilon]

Lymphocyte-specific function of the DNA polymerase epsilon subunit Pole3

AChR [gamma]-[epsilon] point mutations (draft, experiments)

Novel mutations in the RS1 gene in Japanese patients with X-linked congenital retinoschisis

Characterization of clinical phenotypes in congenital myasthenic syndrome associated with the c.1327delg frameshift mutation in chrne encoding the acetylcholine receptor epsilon subunit

In situ: e [epsilon] subunit (draft, H. R. Brenner, für Developmental Biology)

e-Ko article, PNAS, 1996;g-e-[gamma-epsilon] subunit switch Review, 2005.

Towards linked open gene mutations data

Lymphocyte-specific function of the DNA polymerase epsilon subunit Pole3 revealed bynNeomorphic alleles

[Epsilon]

X-linked congenital adrenal hypoplasia: a case presentation

Functional consequences of ε [epsilon] AChR subunit truncating mutations linked to congenital myasthenic syndrome

Point mutations rat 5 AChR [epsilon]- und [gamma]-subunit natural mutations BC3Hs/[epsilon]

Lymphocyte-specific function of the DNA polymerase epsilon subunit Pole3

AChR [gamma]-[epsilon] point mutations (draft, experiments)

Novel mutations in the RS1 gene in Japanese patients with X-linked congenital retinoschisis

Characterization of clinical phenotypes in congenital myasthenic syndrome associated with the c.1327delg frameshift mutation in chrne encoding the acetylcholine receptor epsilon subunit

In situ: e [epsilon] subunit (draft, H. R. Brenner, für Developmental Biology)

e-Ko article, PNAS, 1996;g-e-[gamma-epsilon] subunit switch Review, 2005.

Towards linked open gene mutations data

Lymphocyte-specific function of the DNA polymerase epsilon subunit Pole3 revealed bynNeomorphic alleles

[Epsilon]

X-linked congenital adrenal hypoplasia: a case presentation

Functional consequences of ε [epsilon] AChR subunit truncating mutations linked to congenital myasthenic syndrome

Point mutations rat 5 AChR [epsilon]- und [gamma]-subunit natural mutations BC3Hs/[epsilon]

Lymphocyte-specific function of the DNA polymerase epsilon subunit Pole3

AChR [gamma]-[epsilon] point mutations (draft, experiments)

Novel mutations in the RS1 gene in Japanese patients with X-linked congenital retinoschisis

Characterization of clinical phenotypes in congenital myasthenic syndrome associated with the c.1327delg frameshift mutation in chrne encoding the acetylcholine receptor epsilon subunit

In situ: e [epsilon] subunit (draft, H. R. Brenner, für Developmental Biology)

e-Ko article, PNAS, 1996;g-e-[gamma-epsilon] subunit switch Review, 2005.

Towards linked open gene mutations data

Lymphocyte-specific function of the DNA polymerase epsilon subunit Pole3 revealed bynNeomorphic alleles

[Epsilon]

X-linked congenital adrenal hypoplasia: a case presentation

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