Nonrecurrent PMP22-RAI1 contiguous gene deletions arise from replication-based mechanisms and result in Smith-Magenis syndrome with evident peripheral neuropathy.

Ignacio Briceño Balcazar

doi:10.1007/s00439-016-1703-5

Nonrecurrent PMP22-RAI1 contiguous gene deletions arise from replication-based mechanisms and result in Smith-Magenis syndrome with evident peripheral neuropathy.

Ignacio Briceño Balcazar (Another Number Author)

Grupo de Investigación en Genética Humana

Research output: Contribution to journal › Article › peer-review

9 Scopus citations

Translated title of the contribution	Nonrecurrent PMP22-RAI1 contiguous gene deletions arise from replication-based mechanisms and result in Smith-Magenis syndrome with evident peripheral neuropathy.
Original language	Undefined/Unknown
Pages (from-to)	1161-1174
Number of pages	13
Journal	Human Genetics
DOIs	https://doi.org/10.1007/s00439-016-1703-5
State	Published - 1 Oct 2016

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Full research article

Indexación Internacional (Artículo)

ISI Y SCOPUS

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Q1

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Q1

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Access to Document

10.1007/s00439-016-1703-5License: CC BY-ND

https://link.springer.com/article/10.1007/s00439-016-1703-5License: CC BY-ND

Estudio De Factores Geneticos En Cancer De Seno En Poblacion Colombiana Fase Ii: Análisis De Mutaciones En El Gen Dear1 Y Su Asociación Con Cáncer De Seno Y Desenlace Clínico En La Población Colombiana.
Briceño Balcazar, I. (PI), Castillo Zamora, M. F. (Researcher) & Beltran Lopez, A. P. (Researcher)
1/02/13 → 1/02/16
Project: Project Research

Cite this

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title = "Nonrecurrent PMP22-RAI1 contiguous gene deletions arise from replication-based mechanisms and result in Smith-Magenis syndrome with evident peripheral neuropathy.",

author = "\{Brice{\~n}o Balcazar\}, Ignacio",

year = "2016",

month = oct,

day = "1",

doi = "10.1007/s00439-016-1703-5",

language = "Indefinido/desconocido",

pages = "1161--1174",

journal = "Human Genetics",

issn = "1432-1203",

publisher = "Springer Science and Business Media Deutschland GmbH",

}

TY - JOUR

T1 - Nonrecurrent PMP22-RAI1 contiguous gene deletions arise from replication-based mechanisms and result in Smith-Magenis syndrome with evident peripheral neuropathy.

AU - Briceño Balcazar, Ignacio

PY - 2016/10/1

Y1 - 2016/10/1

U2 - 10.1007/s00439-016-1703-5

DO - 10.1007/s00439-016-1703-5

M3 - Artículo

SN - 1432-1203

SP - 1161

EP - 1174

JO - Human Genetics

JF - Human Genetics

ER -

Nonrecurrent PMP22-RAI1 contiguous gene deletions arise from replication-based mechanisms and result in Smith-Magenis syndrome with evident peripheral neuropathy.

Article Classification

Indexación Internacional (Artículo)

Scopus-Q Quartil

ISI- Q Quartil

Categoría Publindex

Access to Document

Projects

Estudio De Factores Geneticos En Cancer De Seno En Poblacion Colombiana Fase Ii: Análisis De Mutaciones En El Gen Dear1 Y Su Asociación Con Cáncer De Seno Y Desenlace Clínico En La Población Colombiana.

Cite this