Novel mutation identified in Leber congenital amaurosis - a case report

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Location: Deutsche Nationalbibliothek Frankfurt am Main

ISSN: 1471-2415

Extent: Online-Ressource

Language: Englisch

Notes: online resource.

Bibliographic citation: Novel mutation identified in Leber congenital amaurosis - a case report ; volume:20 ; number:1 ; day:31 ; month:7 ; year:2020 ; pages:1-7 ; date:12.2020
BMC ophthalmology ; 20, Heft 1 (31.7.2020), 1-7, 12.2020

Creator: Sato, Shigeru
Morimoto, Takeshi
Tanaka, Sayaka
Hotta, Kikuko
Fujikado, Takashi
Tsujikawa, Motokazu
Nishida, Kohji

Contributor: SpringerLink (Online service)

DOI: 10.1186/s12886-020-01577-9

URN: urn:nbn:de:101:1-2020092722474841072179

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

Last update: 14.08.2025, 10:46 AM CEST

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Associated

Sato, Shigeru
Morimoto, Takeshi
Tanaka, Sayaka
Hotta, Kikuko
Fujikado, Takashi
Tsujikawa, Motokazu
Nishida, Kohji
SpringerLink (Online service)

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Novel ARX mutation identified in infantile spasm syndrome patient

Exome sequencing identified a novel Col6α1 mutation in an Iranian patient with Ullrich congenital muscular dystrophy: a case report

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A novel compound heterozygous mutation in TTC8 identified in a Japanese patient

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Novel PIP5K1C variant identified in a Chinese pedigree with lethal congenital contractural syndrome 3

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Novel mutation identified in Leber congenital amaurosis - a case report

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Other Objects (12)

A novel ZIC3 gene mutation identified in patients with heterotaxy and congenital heart disease

A novel LMNA mutation identified in a Japanese patient with LMNA-associated congenital muscular dystrophy

Novel GUCY2D mutation causes phenotypic variability of Leber congenital amaurosis in a large kindred

Novel ARX mutation identified in infantile spasm syndrome patient

Exome sequencing identified a novel Col6α1 mutation in an Iranian patient with Ullrich congenital muscular dystrophy: a case report

Exome sequencing identifies a novel GUCY2D mutation in an Iranian family with Leber congenital amaurosis-1: a case report

Novel genetic alteration in congenital melanocytic nevus: MAP2K1 germline mutation with BRAF somatic mutation

Novel gene variants in Polish patients with Leber congenital amaurosis (LCA)

Fibrinogen Martin: A Novel Mutation in FGB (Gln180Stop) Causing Congenital Afibrinogenemia

A novel compound heterozygous mutation in TTC8 identified in a Japanese patient

A novel mutation of KCNJ1 identified in an affected child with nephrolithiasis

Novel PIP5K1C variant identified in a Chinese pedigree with lethal congenital contractural syndrome 3

A novel ZIC3 gene mutation identified in patients with heterotaxy and congenital heart disease

A novel LMNA mutation identified in a Japanese patient with LMNA-associated congenital muscular dystrophy

Novel GUCY2D mutation causes phenotypic variability of Leber congenital amaurosis in a large kindred

Novel ARX mutation identified in infantile spasm syndrome patient

Exome sequencing identified a novel Col6α1 mutation in an Iranian patient with Ullrich congenital muscular dystrophy: a case report

Exome sequencing identifies a novel GUCY2D mutation in an Iranian family with Leber congenital amaurosis-1: a case report

Novel genetic alteration in congenital melanocytic nevus: MAP2K1 germline mutation with BRAF somatic mutation

Novel gene variants in Polish patients with Leber congenital amaurosis (LCA)

Fibrinogen Martin: A Novel Mutation in FGB (Gln180Stop) Causing Congenital Afibrinogenemia

A novel compound heterozygous mutation in TTC8 identified in a Japanese patient

A novel mutation of KCNJ1 identified in an affected child with nephrolithiasis

Novel PIP5K1C variant identified in a Chinese pedigree with lethal congenital contractural syndrome 3

A novel ZIC3 gene mutation identified in patients with heterotaxy and congenital heart disease

A novel LMNA mutation identified in a Japanese patient with LMNA-associated congenital muscular dystrophy

Novel GUCY2D mutation causes phenotypic variability of Leber congenital amaurosis in a large kindred

Novel ARX mutation identified in infantile spasm syndrome patient

Exome sequencing identified a novel Col6α1 mutation in an Iranian patient with Ullrich congenital muscular dystrophy: a case report

Exome sequencing identifies a novel GUCY2D mutation in an Iranian family with Leber congenital amaurosis-1: a case report

Novel genetic alteration in congenital melanocytic nevus: MAP2K1 germline mutation with BRAF somatic mutation

Novel gene variants in Polish patients with Leber congenital amaurosis (LCA)

Fibrinogen Martin: A Novel Mutation in FGB (Gln180Stop) Causing Congenital Afibrinogenemia

A novel compound heterozygous mutation in TTC8 identified in a Japanese patient

A novel mutation of KCNJ1 identified in an affected child with nephrolithiasis

Novel PIP5K1C variant identified in a Chinese pedigree with lethal congenital contractural syndrome 3

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