A novel class of Pseudoautosomal region 1 deletions downstream of SHOX is associated with Leri-Weill dyschondrosteosis. (Record no. 15807521)

MARC details
000 -LEADER
fixed length control field 01881 a2200565 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250515001839.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 200511s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 0002-9297
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1086/449313
Source of number or code doi
040 ## - CATALOGING SOURCE
Original cataloging agency NLM
Language of cataloging eng
Transcribing agency NLM
100 1# - MAIN ENTRY--PERSONAL NAME
Personal name Benito-Sanz, Sara
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20051115
245 00 - TITLE STATEMENT
Title A novel class of Pseudoautosomal region 1 deletions downstream of SHOX is associated with Leri-Weill dyschondrosteosis.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. American journal of human genetics
Date of publication, distribution, etc. Oct 2005
300 ## - PHYSICAL DESCRIPTION
Extent 533-44 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Journal Article; Research Support, Non-U.S. Gov't
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Base Sequence
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Chromosome Mapping
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Cohort Studies
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element DNA Primers
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Female
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Gene Deletion
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Genetic Heterogeneity
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Homeodomain Proteins
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Humans
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element In Situ Hybridization, Fluorescence
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Male
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Osteochondrodysplasias
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Pedigree
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Radius
General subdivision abnormalities
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Short Stature Homeobox Protein
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Transcription Factors
General subdivision genetics
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Thomas, N Simon
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Huber, Céline
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Huber, Celine
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Gorbenko del Blanco, Darya
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Del Blanco, Darya Gorbenko
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Aza-Carmona, Miriam
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Crolla, John A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Maloney, Vivienne
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Rappold, Gudrun
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Argente, Jesús
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Argente, Jesus
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Campos-Barros, Angel
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Cormier-Daire, Valérie
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Cormier-Daire, Valerie
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Heath, Karen E
773 0# - HOST ITEM ENTRY
Title American journal of human genetics
Related parts vol. 77
-- no. 4
-- p. 533-44
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1086/449313">https://doi.org/10.1086/449313</a>
Public note Available from publisher's website

No items available.