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PMID: 10364538 Published · ppublish English Letter Research Support, Non-U.S. Gov't

Mutations of UFD1L are not responsible for the majority of cases of DiGeorge Syndrome/velocardiofacial syndrome without deletions within chromosome 22q11.

American journal of human genetics ·Vol. 65 ·No. 1 ·1999-07-00 ·Pages 247-9

Wadey R, McKie J, Papapetrou C, Sutherland H, Lohman F, Osinga J, Frohn I, Hofstra R, Meijers C, Amati F, Conti E, Pizzuti A, Dallapiccola B, Novelli G, Scambler P

Abstract

暂无摘要

MeSH Terms

Adaptor Proteins, Vesicular Transport Chromosomes, Human, Pair 22 DiGeorge Syndrome/genetics Gene Deletion Genetic Testing Humans Intracellular Signaling Peptides and Proteins Polymorphism, Genetic Polymorphism, Single-Stranded Conformational Proteins/genetics

Chemicals

Adaptor Proteins, Vesicular Transport Intracellular Signaling Peptides and Proteins Proteins UFD1 protein, human

Authors & Affiliations

15 authors, click to expand affiliations / ORCID

Wadey R

McKie J

Papapetrou C

Sutherland H

Lohman F

Osinga J

Frohn I

Hofstra R

Meijers C

Amati F

Conti E

Pizzuti A

Dallapiccola B

Novelli G

Scambler P

Article Info

Journal

American journal of human genetics

Abbr.

Am J Hum Genet

ISSN

0002-9297

DOI

10.1086/302468

Published

1999-07-00

Pages

247-9

Language

English

Region

United States

NLM ID

0370475

PMCID

PMC1378096

Subset

Grants

Telethon · E.0723 · Italy

External Links

PubMed source DOI: 10.1086/302468 PMC Full Text View journal details

Analysis Services

Mutations of UFD1L are not responsible for the majority of cases of DiGeorge Syndrome/velocardiofacial syndrome without deletions within chromosome 22q11.

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