Morquio A syndrome-associated mutations: a review of alterations in the GALNS gene and a new locus-specific database. (Record no. 24111846)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01675 a2200541 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250516230603.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201506s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1098-1004 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1002/humu.22635 |
| 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 | Morrone, Amelia |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20150626 |
| 245 00 - TITLE STATEMENT | |
| Title | Morquio A syndrome-associated mutations: a review of alterations in the GALNS gene and a new locus-specific database. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Human mutation |
| Date of publication, distribution, etc. | Nov 2014 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 1271-9 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article; Review |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Alleles |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Animals |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Biomarkers |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Chondroitinsulfatases |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Databases, Nucleic Acid |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Disease Models, Animal |
| 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 Association Studies |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genotype |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Geography |
| 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 | Mucopolysaccharidosis IV |
| General subdivision | diagnosis |
| 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 | Phenotype |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Quantitative Trait Loci |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Caciotti, Anna |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Atwood, Robert |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Davidson, Kathryn |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Du, Chaoyi |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Francis-Lyon, Patricia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Harmatz, Paul |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mealiffe, Matthew |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mooney, Sean |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Oron, Tal Ronnen |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ryles, April |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zawadzki, Karl A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Miller, Nicole |
| 773 0# - HOST ITEM ENTRY | |
| Title | Human mutation |
| Related parts | vol. 35 |
| -- | no. 11 |
| -- | p. 1271-9 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1002/humu.22635">https://doi.org/10.1002/humu.22635</a> |
| Public note | Available from publisher's website |
No items available.