Type I hyperprolinemia: genotype/phenotype correlations. (Record no. 19874809)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02023 a2200685 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250515225102.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201010s 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.21296 |
| 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 | Guilmatre, Audrey |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20101020 |
| 245 00 - TITLE STATEMENT | |
| Title | Type I hyperprolinemia: genotype/phenotype correlations. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Human mutation |
| Date of publication, distribution, etc. | Aug 2010 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 961-5 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Adolescent |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Adult |
| 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 | Amino Acid Metabolism, Inborn Errors |
| General subdivision | enzymology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Case-Control Studies |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Child |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Child, Preschool |
| 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 | Genetic Association Studies |
| 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 |
| 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 | Mutation, Missense |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Proline |
| General subdivision | metabolism |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Proline Oxidase |
| General subdivision | genetics |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Legallic, Solenn |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Steel, Gary |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Willis, Alecia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Di Rosa, Gabriella |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Goldenberg, Alice |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Drouin-Garraud, Valérie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Guet, Agnès |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mignot, Cyril |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Des Portes, Vincent |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Valayannopoulos, Vassili |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Van Maldergem, Lionel |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hoffman, Jodi D |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Izzi, Claudia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Espil-Taris, Caroline |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Orcesi, Simona |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bonafé, Luisa |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Le Galloudec, Eric |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Maurey, Hélène |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ioos, Christine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Afenjar, Alexandra |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Blanchet, Patricia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Echenne, Bernard |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Roubertie, Agathe |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Frebourg, Thierry |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Valle, David |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Campion, Dominique |
| 773 0# - HOST ITEM ENTRY | |
| Title | Human mutation |
| Related parts | vol. 31 |
| -- | no. 8 |
| -- | p. 961-5 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1002/humu.21296">https://doi.org/10.1002/humu.21296</a> |
| Public note | Available from publisher's website |
No items available.