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PMID: 15235037 Published · ppublish English Letter Multicenter Study Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S.

SEMA3E mutation in a patient with CHARGE syndrome.

Journal of medical genetics ·Vol. 41 ·No. 7 ·2004-07-00 ·Pages e94

Lalani SR, Safiullah AM, Molinari LM, Fernbach SD, Martin DM, Belmont JW

Abstract

暂无摘要

MeSH Terms

Abnormalities, Multiple/genetics Choanal Atresia/genetics Chromosome Breakage/genetics Chromosome Mapping/methods Chromosomes, Human, Pair 2/genetics Chromosomes, Human, Pair 7/genetics Coloboma/genetics Deafness/genetics Heart Defects, Congenital/genetics Humans Male Mutation/genetics Mutation, Missense/genetics Semaphorins/genetics Syndrome Translocation, Genetic/genetics

Chemicals

SEMA3E protein, human Semaphorins

Authors & Affiliations

6 authors, click to expand affiliations / ORCID

Lalani S R

Safiullah A M

Molinari L M

Fernbach S D

Martin D M

Belmont J W

Article Info

Journal

Journal of medical genetics

Abbr.

J Med Genet

ISSN

1468-6244

DOI

10.1136/jmg.2003.017640

Published

2004-07-00

Pages

e94

Language

English

Region

England

NLM ID

2985087R

PMCID

PMC1735828

Subset

Grants

NICHD NIH HHS · HD3905 · United States

External Links

PubMed source DOI: 10.1136/jmg.2003.017640 PMC Full Text View journal details

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SEMA3E mutation in a patient with CHARGE syndrome.

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