Genetic basis of transferase-deficient galactosaemia in Ireland and the population history of the Irish Travellers. (Record no. 10397716)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01354 a2200397 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250513190758.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 199910s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1018-4813 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1038/sj.ejhg.5200327 |
| 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 | Murphy, M |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 19991019 |
| 245 00 - TITLE STATEMENT | |
| Title | Genetic basis of transferase-deficient galactosaemia in Ireland and the population history of the Irish Travellers. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | European journal of human genetics : EJHG |
| Date of publication, distribution, etc. | Jul 1999 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 549-54 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 | Cohort Studies |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | DNA Primers |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Galactosemias |
| General subdivision | diagnosis |
| 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 | Genetic Carrier Screening |
| 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 | Ireland |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mutation |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Neonatal Screening |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | UTP-Hexose-1-Phosphate Uridylyltransferase |
| General subdivision | deficiency |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | McHugh, B |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tighe, O |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mayne, P |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | O'Neill, C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Naughten, E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Croke, D T |
| 773 0# - HOST ITEM ENTRY | |
| Title | European journal of human genetics : EJHG |
| Related parts | vol. 7 |
| -- | no. 5 |
| -- | p. 549-54 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1038/sj.ejhg.5200327">https://doi.org/10.1038/sj.ejhg.5200327</a> |
| Public note | Available from publisher's website |
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