A de novo whole gene deletion of XIAP detected by exome sequencing analysis in very early onset inflammatory bowel disease: a case report. (Record no. 25460839)

MARC details
000 -LEADER
fixed length control field 01560 a2200445 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250517063627.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 201607s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1471-230X
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1186/s12876-015-0394-z
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 Kelsen, Judith R
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20160715
245 00 - TITLE STATEMENT
Title A de novo whole gene deletion of XIAP detected by exome sequencing analysis in very early onset inflammatory bowel disease: a case report.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. BMC gastroenterology
Date of publication, distribution, etc. Nov 2015
300 ## - PHYSICAL DESCRIPTION
Extent 160 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Age of Onset
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element DNA Copy Number Variations
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Exome
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 Diseases, X-Linked
General subdivision complications
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, Newborn
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Inflammatory Bowel Diseases
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Lymphoproliferative Disorders
General subdivision complications
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Male
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Dawany, Noor
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Martinez, Alejandro
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Martinez, Alejuandro
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Grochowski, Christopher M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Maurer, Kelly
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Rappaport, Eric
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Piccoli, David A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Baldassano, Robert N
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Mamula, Petar
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Sullivan, Kathleen E
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Devoto, Marcella
773 0# - HOST ITEM ENTRY
Title BMC gastroenterology
Related parts vol. 15
-- p. 160
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1186/s12876-015-0394-z">https://doi.org/10.1186/s12876-015-0394-z</a>
Public note Available from publisher's website

No items available.