Newfoundland Rod-Cone Dystrophy, an Early-Onset Retinal Dystrophy, Is Caused by Splice-Junction Mutations in RLBP1

Bibliographic Details
Published in:The American Journal of Human Genetics
Main Authors: Eichers, Erica R., Green, Jane S., Stockton, David W., Jackman, Christopher S., Whelan, James, McNamara, J. Arch, Johnson, Gordon J., Lupski, James R., Katsanis, Nicholas
Format: Article in Journal/Newspaper
Language:English
Published: Elsevier BV 2002
Subjects:
Genetics (clinical)
Genetics
Newfoundland
Online Access:http://dx.doi.org/10.1086/339688
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spelling crelsevierbv:10.1086/339688 2023-09-26T15:20:18+02:00 Newfoundland Rod-Cone Dystrophy, an Early-Onset Retinal Dystrophy, Is Caused by Splice-Junction Mutations in RLBP1 Eichers, Erica R. Green, Jane S. Stockton, David W. Jackman, Christopher S. Whelan, James McNamara, J. Arch Johnson, Gordon J. Lupski, James R. Katsanis, Nicholas 2002 http://dx.doi.org/10.1086/339688 https://api.elsevier.com/content/article/PII:S0002929707603024?httpAccept=text/xml https://api.elsevier.com/content/article/PII:S0002929707603024?httpAccept=text/plain en eng Elsevier BV https://www.elsevier.com/tdm/userlicense/1.0/ https://www.elsevier.com/open-access/userlicense/1.0/ The American Journal of Human Genetics volume 70, issue 4, page 955-964 ISSN 0002-9297 Genetics (clinical) Genetics journal-article 2002 crelsevierbv https://doi.org/10.1086/339688 2023-08-25T20:40:55Z Article in Journal/Newspaper Newfoundland ScienceDirect (Elsevier - via Crossref) The American Journal of Human Genetics 70 4 955 964
institution Open Polar
collection ScienceDirect (Elsevier - via Crossref)
op_collection_id crelsevierbv
language English
topic Genetics (clinical)
Genetics
spellingShingle Genetics (clinical)
Genetics
Eichers, Erica R.
Green, Jane S.
Stockton, David W.
Jackman, Christopher S.
Whelan, James
McNamara, J. Arch
Johnson, Gordon J.
Lupski, James R.
Katsanis, Nicholas
Newfoundland Rod-Cone Dystrophy, an Early-Onset Retinal Dystrophy, Is Caused by Splice-Junction Mutations in RLBP1
topic_facet Genetics (clinical)
Genetics
format Article in Journal/Newspaper
author Eichers, Erica R.
Green, Jane S.
Stockton, David W.
Jackman, Christopher S.
Whelan, James
McNamara, J. Arch
Johnson, Gordon J.
Lupski, James R.
Katsanis, Nicholas
author_facet Eichers, Erica R.
Green, Jane S.
Stockton, David W.
Jackman, Christopher S.
Whelan, James
McNamara, J. Arch
Johnson, Gordon J.
Lupski, James R.
Katsanis, Nicholas
author_sort Eichers, Erica R.
title Newfoundland Rod-Cone Dystrophy, an Early-Onset Retinal Dystrophy, Is Caused by Splice-Junction Mutations in RLBP1
title_short Newfoundland Rod-Cone Dystrophy, an Early-Onset Retinal Dystrophy, Is Caused by Splice-Junction Mutations in RLBP1
title_full Newfoundland Rod-Cone Dystrophy, an Early-Onset Retinal Dystrophy, Is Caused by Splice-Junction Mutations in RLBP1
title_fullStr Newfoundland Rod-Cone Dystrophy, an Early-Onset Retinal Dystrophy, Is Caused by Splice-Junction Mutations in RLBP1
title_full_unstemmed Newfoundland Rod-Cone Dystrophy, an Early-Onset Retinal Dystrophy, Is Caused by Splice-Junction Mutations in RLBP1
title_sort newfoundland rod-cone dystrophy, an early-onset retinal dystrophy, is caused by splice-junction mutations in rlbp1
publisher Elsevier BV
publishDate 2002
url http://dx.doi.org/10.1086/339688
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https://api.elsevier.com/content/article/PII:S0002929707603024?httpAccept=text/plain
genre Newfoundland
genre_facet Newfoundland
op_source The American Journal of Human Genetics
volume 70, issue 4, page 955-964
ISSN 0002-9297
op_rights https://www.elsevier.com/tdm/userlicense/1.0/
https://www.elsevier.com/open-access/userlicense/1.0/
op_doi https://doi.org/10.1086/339688
container_title The American Journal of Human Genetics
container_volume 70
container_issue 4
container_start_page 955
op_container_end_page 964
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