A novel germline SDHB mutation in a gastrointestinal stromal tumor patient without bona fide features of the Carney-Stratakis dyad. (Record no. 21383372)

MARC details
000 -LEADER
fixed length control field 01539 a2200445 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250516070438.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 201211s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1573-7292
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1007/s10689-011-9499-x
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 Celestino, Ricardo
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20121130
245 00 - TITLE STATEMENT
Title A novel germline SDHB mutation in a gastrointestinal stromal tumor patient without bona fide features of the Carney-Stratakis dyad.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Familial cancer
Date of publication, distribution, etc. Jun 2012
300 ## - PHYSICAL DESCRIPTION
Extent 189-94 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 Amino Acid Substitution
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Asparagine
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 Gastrointestinal Neoplasms
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Gastrointestinal Stromal Tumors
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Germ-Line Mutation
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 Isoleucine
General subdivision genetics
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 Middle Aged
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Paraganglioma, Extra-Adrenal
General subdivision etiology
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Succinate Dehydrogenase
General subdivision genetics
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Lima, Jorge
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Faustino, Alexandra
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Máximo, Valdemar
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Gouveia, António
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Vinagre, João
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Soares, Paula
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Lopes, José Manuel
773 0# - HOST ITEM ENTRY
Title Familial cancer
Related parts vol. 11
-- no. 2
-- p. 189-94
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1007/s10689-011-9499-x">https://doi.org/10.1007/s10689-011-9499-x</a>
Public note Available from publisher's website

No items available.