Exome sequencing reveals a mutation in DMP1 in a family with familial sclerosing bone dysplasia. (Record no. 24152169)

MARC details
000 -LEADER
fixed length control field 01579 a2200481 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250516232025.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 201506s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1873-2763
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1016/j.bone.2014.08.014
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 Gannagé-Yared, Marie-Hélène
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20150610
245 00 - TITLE STATEMENT
Title Exome sequencing reveals a mutation in DMP1 in a family with familial sclerosing bone dysplasia.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Bone
Date of publication, distribution, etc. Nov 2014
300 ## - PHYSICAL DESCRIPTION
Extent 142-5 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Adult
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 DNA Mutational Analysis
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Exome
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Extracellular Matrix Proteins
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Family
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 Fibroblast Growth Factor-23
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 Middle Aged
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Molecular Sequence Data
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Mutation
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Osteochondrodysplasias
General subdivision blood
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Phosphoproteins
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Radiography
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Makrythanasis, Periklis
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Chouery, Eliane
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Sobacchi, Cristina
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Mehawej, Cybel
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Santoni, Federico A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Guipponi, Michel
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Antonarakis, Stylianos E
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Hamamy, Hanan
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Mégarbané, André
773 0# - HOST ITEM ENTRY
Title Bone
Related parts vol. 68
-- p. 142-5
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1016/j.bone.2014.08.014">https://doi.org/10.1016/j.bone.2014.08.014</a>
Public note Available from publisher's website

No items available.