Genetic heterogeneity of glycogen storage disease type Ia in France: a study of 48 patients. (Record no. 11001439)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01333 a2200385 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250513223240.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 200011s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1098-1004 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1002/1098-1004(200011)16:5<444::AID-HUMU10>3.0.CO;2-F |
| 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 | Trioche, P |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20001121 |
| 245 00 - TITLE STATEMENT | |
| Title | Genetic heterogeneity of glycogen storage disease type Ia in France: a study of 48 patients. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Human mutation |
| Date of publication, distribution, etc. | Nov 2000 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 444 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 | Alleles |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | France |
| General subdivision | epidemiology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genetic Heterogeneity |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Glucose-6-Phosphatase |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Glycogen Storage Disease Type I |
| General subdivision | enzymology |
| 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 | Liver |
| General subdivision | enzymology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mutation |
| General subdivision | genetics |
| 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 Deletion |
| General subdivision | genetics |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Francoual, J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Chalas, J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Capel, L |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lindenbaum, A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Odièvre, M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Labrune, P |
| 773 0# - HOST ITEM ENTRY | |
| Title | Human mutation |
| Related parts | vol. 16 |
| -- | no. 5 |
| -- | p. 444 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1002/1098-1004(200011)16:5<444::AID-HUMU10>3.0.CO;2-F">https://doi.org/10.1002/1098-1004(200011)16:5<444::AID-HUMU10>3.0.CO;2-F</a> |
| Public note | Available from publisher's website |
No items available.