Frequency of Von Hippel-Lindau germline mutations in classic and non-classic Von Hippel-Lindau disease identified by DNA sequencing, Southern blot analysis and multiplex ligation-dependent probe amplification. (Record no. 17195087)

MARC details
000 -LEADER
fixed length control field 01667 a2200481 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250515075302.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 200711s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 0009-9163
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1111/j.1399-0004.2007.00827.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 Hes, F J
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20071105
245 00 - TITLE STATEMENT
Title Frequency of Von Hippel-Lindau germline mutations in classic and non-classic Von Hippel-Lindau disease identified by DNA sequencing, Southern blot analysis and multiplex ligation-dependent probe amplification.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Clinical genetics
Date of publication, distribution, etc. Aug 2007
300 ## - PHYSICAL DESCRIPTION
Extent 122-9 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 Blotting, Southern
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 Gene Frequency
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 Nucleic Acid Amplification Techniques
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Pedigree
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Prevalence
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Sequence Analysis, DNA
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element von Hippel-Lindau Disease
General subdivision diagnosis
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name van der Luijt, R B
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Janssen, A L W
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Zewald, R A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name de Jong, G J
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Lenders, J W
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Links, T P
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Luyten, G P M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Sijmons, R H
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Eussen, H J
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Halley, D J J
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Lips, C J M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Pearson, P L
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name van den Ouweland, A M W
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Majoor-Krakauer, D F
773 0# - HOST ITEM ENTRY
Title Clinical genetics
Related parts vol. 72
-- no. 2
-- p. 122-9
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1111/j.1399-0004.2007.00827.x">https://doi.org/10.1111/j.1399-0004.2007.00827.x</a>
Public note Available from publisher's website

No items available.