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Germline Mutation in KIF1Bβ Gene Associated with Loss of Heterozygosity: Usefulness of Next-Generati...

Germline Mutation in KIF1Bβ Gene Associated with Loss of Heterozygosity: Usefulness of Next-Generati...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_d8fc0e09e87348c19b751470b08d7b7a

Germline Mutation in KIF1Bβ Gene Associated with Loss of Heterozygosity: Usefulness of Next-Generation Sequencing in the Genetic Screening of Patients with Pheochromocytoma

About this item

Full title

Germline Mutation in KIF1Bβ Gene Associated with Loss of Heterozygosity: Usefulness of Next-Generation Sequencing in the Genetic Screening of Patients with Pheochromocytoma

Publisher

Cairo, Egypt: Hindawi Publishing Corporation

Journal title

International journal of endocrinology, 2020, Vol.2020 (2020), p.1-8

Language

English

Formats

Publication information

Publisher

Cairo, Egypt: Hindawi Publishing Corporation

More information

Scope and Contents

Contents

The genetic approach of pheochromocytomas and paragangliomas has changed in the last two decades. Nowadays, we know that more than 40% of patients have a germline mutation in one of the susceptibility genes identified to date. Our aim is to underline how genetic diagnosis by next-generation sequencing (NGS) can improve the management of patients af...

Alternative Titles

Full title

Germline Mutation in KIF1Bβ Gene Associated with Loss of Heterozygosity: Usefulness of Next-Generation Sequencing in the Genetic Screening of Patients with Pheochromocytoma

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_doaj_primary_oai_doaj_org_article_d8fc0e09e87348c19b751470b08d7b7a

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_d8fc0e09e87348c19b751470b08d7b7a

Other Identifiers

ISSN

1687-8337

E-ISSN

1687-8345

DOI

10.1155/2020/3671396

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