RANK-dependent autosomal recessive osteopetrosis: characterization of five new cases with novel mutations. (Record no. 21485667)

MARC details
000 -LEADER
fixed length control field 02236 a2200649 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250516074122.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 201206s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1523-4681
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1002/jbmr.559
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 Pangrazio, Alessandra
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20120613
245 00 - TITLE STATEMENT
Title RANK-dependent autosomal recessive osteopetrosis: characterization of five new cases with novel mutations.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research
Date of publication, distribution, etc. Feb 2012
300 ## - PHYSICAL DESCRIPTION
Extent 342-51 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 Amino Acid Sequence
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element B-Lymphocytes
General subdivision metabolism
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Cell Compartmentation
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Cell Differentiation
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 Follow-Up Studies
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Hematopoietic Stem Cell Transplantation
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 Infant
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Infant, Newborn
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 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 Osteoclasts
General subdivision pathology
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Osteopetrosis
General subdivision congenital
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Receptor Activator of Nuclear Factor-kappa B
General subdivision chemistry
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Cassani, Barbara
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Guerrini, Matteo M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Crockett, Julie C
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Marrella, Veronica
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Zammataro, Luca
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Strina, Dario
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Schulz, Ansgar
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Schlack, Claire
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Kornak, Uwe
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Mellis, David J
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Duthie, Angela
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Helfrich, Miep H
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Durandy, Anne
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Moshous, Despina
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Vellodi, Ashok
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Chiesa, Robert
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Veys, Paul
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Lo Iacono, Nadia
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Vezzoni, Paolo
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Fischer, Alain
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Villa, Anna
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Sobacchi, Cristina
773 0# - HOST ITEM ENTRY
Title Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research
Related parts vol. 27
-- no. 2
-- p. 342-51
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1002/jbmr.559">https://doi.org/10.1002/jbmr.559</a>
Public note Available from publisher's website

No items available.