Segmental uniparental disomy leading to homozygosity for a pathogenic mutation in three recessive metabolic diseases. (Record no. 21342160)

MARC details
000 -LEADER
fixed length control field 01556 a2200421 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250516065040.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 201207s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1096-7206
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1016/j.ymgme.2011.10.019
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 Pérez, Belén
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20120723
245 00 - TITLE STATEMENT
Title Segmental uniparental disomy leading to homozygosity for a pathogenic mutation in three recessive metabolic diseases.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Molecular genetics and metabolism
Date of publication, distribution, etc. Feb 2012
300 ## - PHYSICAL DESCRIPTION
Extent 270-1 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Letter; Research Support, Non-U.S. Gov't
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Chromosome Aberrations
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Congenital Disorders of Glycosylation
General subdivision diagnosis
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Genes, Recessive
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Homocystinuria
General subdivision diagnosis
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Homozygote
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 Microsatellite Repeats
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Mutation
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Pathology, Molecular
General subdivision methods
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Phosphotransferases (Phosphomutases)
General subdivision deficiency
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Propionic Acidemia
General subdivision diagnosis
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Uniparental Disomy
General subdivision diagnosis
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Nevado, Julián
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Lapunzina, Pablo
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Gallego, Lorena
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Pérez-Cerdá, Celia
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Merinero, Begoña
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Ugarte, Magdalena
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Desviat, Lourdes R
773 0# - HOST ITEM ENTRY
Title Molecular genetics and metabolism
Related parts vol. 105
-- no. 2
-- p. 270-1
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1016/j.ymgme.2011.10.019">https://doi.org/10.1016/j.ymgme.2011.10.019</a>
Public note Available from publisher's website

No items available.