Three keratin gene mutations account for the majority of dominant simplex epidermolysis bullosa cases within the population of Ireland. (Record no. 8802039)

MARC details
000 -LEADER
fixed length control field 01478 a2200445 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250513100550.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 199611s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1059-7794
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1002/(SICI)1098-1004(1996)8:1<57::AID-HUMU8>3.0.CO;2-M
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 Humphries, M M
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 19961120
245 00 - TITLE STATEMENT
Title Three keratin gene mutations account for the majority of dominant simplex epidermolysis bullosa cases within the population of Ireland.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Human mutation
Date of publication, distribution, etc. 1996
300 ## - PHYSICAL DESCRIPTION
Extent 57-63 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 Amino Acid Sequence
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Conserved Sequence
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Epidermolysis Bullosa Simplex
General subdivision ethnology
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 Genes, Dominant
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 Ireland
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Keratins
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 Molecular Sequence Data
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 Point Mutation
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Mansergh, F C
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Kiang, A S
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Jordan, S A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Sheils, D M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Martin, M J
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Farrar, G J
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Kenna, P F
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Young, M M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Humphries, P
773 0# - HOST ITEM ENTRY
Title Human mutation
Related parts vol. 8
-- no. 1
-- p. 57-63
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1002/(SICI)1098-1004(1996)8:1<57::AID-HUMU8>3.0.CO;2-M">https://doi.org/10.1002/(SICI)1098-1004(1996)8:1<57::AID-HUMU8>3.0.CO;2-M</a>
Public note Available from publisher's website

No items available.