Exome sequencing identifies novel and recurrent mutations in GJA8 and CRYGDassociated with inherited cataract

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Location: Deutsche Nationalbibliothek Frankfurt am Main

ISSN: 1479-7364

Extent: Online-Ressource

Language: Englisch

Notes: online resource.

Bibliographic citation: Exome sequencing identifies novel and recurrent mutations in GJA8 and CRYGDassociated with inherited cataract ; volume:8 ; number:1 ; day:18 ; month:11 ; year:2014 ; pages:1-8 ; date:12.2014
Human genomics ; 8, Heft 1 (18.11.2014), 1-8, 12.2014

Creator: Mackay, Donna S.
Bennett, Thomas M.
Culican, Susan M.
Shiels, Alan

Contributor: SpringerLink (Online service)

DOI: 10.1186/s40246-014-0019-6

URN: urn:nbn:de:101:1-2021081021590255628826

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

Last update: 14.08.2025, 10:48 AM CEST

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Mackay, Donna S.
Bennett, Thomas M.
Culican, Susan M.
Shiels, Alan
SpringerLink (Online service)

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Exome sequencing identifies novel and recurrent mutations in GJA8 and CRYGDassociated with inherited cataract

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Other Objects (12)

Combinational analysis of linkage and exome sequencing identifies the causative mutation in a Chinese family with congenital cataract

Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration

Whole-exome sequencing enables rapid and prenatal diagnosis of inherited skin disorders

Clinical exome sequencing for inherited retinal degenerations at a tertiary care center

Whole exome sequencing analysis identifies genes for alcohol consumption

Exome-wide association study identifies KDELR3 mutations in extreme myopia

Exome sequencing in primary melanoma identifies novel drivers of melanoma progression

Exome sequencing identifies germline variants in DIS3 in familial multiple myeloma

Exome sequencing identifies nonsegregating nonsense ATM and PALB2variants in familial pancreatic cancer

Whole-exome sequencing analysis identifies novel variants associated with Kawasaki disease susceptibility

Exome sequencing identifies novel and known mutations in families with intellectual disability

Exome sequencing in individuals with cardiovascular laterality defects identifies potential candidate genes

Combinational analysis of linkage and exome sequencing identifies the causative mutation in a Chinese family with congenital cataract

Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration

Whole-exome sequencing enables rapid and prenatal diagnosis of inherited skin disorders

Clinical exome sequencing for inherited retinal degenerations at a tertiary care center

Whole exome sequencing analysis identifies genes for alcohol consumption

Exome-wide association study identifies KDELR3 mutations in extreme myopia

Exome sequencing in primary melanoma identifies novel drivers of melanoma progression

Exome sequencing identifies germline variants in DIS3 in familial multiple myeloma

Exome sequencing identifies nonsegregating nonsense ATM and PALB2variants in familial pancreatic cancer

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Exome sequencing identifies novel and known mutations in families with intellectual disability

Exome sequencing in individuals with cardiovascular laterality defects identifies potential candidate genes

Combinational analysis of linkage and exome sequencing identifies the causative mutation in a Chinese family with congenital cataract

Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration

Whole-exome sequencing enables rapid and prenatal diagnosis of inherited skin disorders

Clinical exome sequencing for inherited retinal degenerations at a tertiary care center

Whole exome sequencing analysis identifies genes for alcohol consumption

Exome-wide association study identifies KDELR3 mutations in extreme myopia

Exome sequencing in primary melanoma identifies novel drivers of melanoma progression

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Exome sequencing identifies nonsegregating nonsense ATM and PALB2variants in familial pancreatic cancer

Whole-exome sequencing analysis identifies novel variants associated with Kawasaki disease susceptibility

Exome sequencing identifies novel and known mutations in families with intellectual disability

Exome sequencing in individuals with cardiovascular laterality defects identifies potential candidate genes

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