Evidence for a founder effect of the germline fumarate hydratase gene mutation R58P causing hereditary leiomyomatosis and renal cell cancer (HLRCC). (Record no. 17430031)

MARC details
000 -LEADER
fixed length control field 01492 a2200457 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250515090750.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 200803s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 0003-4800
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1111/j.1469-1809.2007.00396.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 Heinritz, W
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20080318
245 00 - TITLE STATEMENT
Title Evidence for a founder effect of the germline fumarate hydratase gene mutation R58P causing hereditary leiomyomatosis and renal cell cancer (HLRCC).
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Annals of human genetics
Date of publication, distribution, etc. Jan 2008
300 ## - PHYSICAL DESCRIPTION
Extent 35-40 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Journal Article
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 Aged
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Carcinoma, Renal Cell
General subdivision genetics
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 Female
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Founder Effect
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Fumarate Hydratase
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 Haplotypes
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 Leiomyomatosis
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 Mutation, Missense
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Neoplastic Syndromes, Hereditary
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Pedigree
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Paasch, U
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Sticherling, M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Wittekind, C
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Simon, J C
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Froster, U G
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Renner, R
773 0# - HOST ITEM ENTRY
Title Annals of human genetics
Related parts vol. 72
-- no. Pt 1
-- p. 35-40
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1111/j.1469-1809.2007.00396.x">https://doi.org/10.1111/j.1469-1809.2007.00396.x</a>
Public note Available from publisher's website

No items available.