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PMID: 9246006 Published · ppublish English Letter Research Support, Non-U.S. Gov't

A C2055T transition in exon 8 of the ATP7A gene is associated with exon skipping in an occipital horn syndrome family.

American journal of human genetics ·Vol. 61 ·No. 1 ·1997-07-00 ·Pages 233-8

Ronce N, Moizard MP, Robb L, Toutain A, Villard L, Moraine C

Abstract

暂无摘要

MeSH Terms
Adenosine Triphosphatases/genetics Carrier Proteins/genetics Cation Transport Proteins Copper-Transporting ATPases Cutis Laxa/genetics Exons/genetics Female Humans Male Mutation Pedigree Recombinant Fusion Proteins Syndrome
Chemicals
Carrier Proteins Cation Transport Proteins Recombinant Fusion Proteins Adenosine Triphosphatases ATP7A protein, human Copper-Transporting ATPases
Authors & Affiliations
6 authors, click to expand affiliations / ORCID
Ronce N
Moizard M P
Robb L
Toutain A
Villard L
Moraine C
References (22)
22 references, click to expand
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Article Info
Journal
American journal of human genetics
Abbr.
Am J Hum Genet
ISSN
0002-9297
DOI
10.1016/S0002-9297(07)64297-9
Published
1997-07-00
Pages
233-8
Language
English
Region
United States
NLM ID
0370475
PMCID
PMC1715861
Subset
IM
External Links
PubMed source DOI: 10.1016/S0002-9297(07)64297-9 PMC Full Text View journal details
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