Tyrosinemia type II: Mutation update, 11 novel mutations and description of 5 independent subjects with a novel founder mutation. (Record no. 26931856)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01956 a2200673 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517142110.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201804s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1399-0004 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1111/cge.13003 |
| 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 | Peña-Quintana, L |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20180430 |
| 245 00 - TITLE STATEMENT | |
| Title | Tyrosinemia type II: Mutation update, 11 novel mutations and description of 5 independent subjects with a novel founder mutation. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Clinical genetics |
| Date of publication, distribution, etc. | Sep 2017 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 306-317 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 | Age of Onset |
| 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 | 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 | Founder Effect |
| 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 | Genetic Loci |
| 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 | 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 | Infant, Newborn |
| 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 |
| 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 | Phenotype |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Polymorphism, Single Nucleotide |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Tyrosine Transaminase |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Tyrosinemias |
| General subdivision | diagnosis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Young Adult |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Scherer, G |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Curbelo-Estévez, M L |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Jiménez-Acosta, F |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hartmann, B |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | La Roche, F |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Meavilla-Olivas, S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pérez-Cerdá, C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | García-Segarra, N |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Giguère, Y |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Huppke, P |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mitchell, G A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mönch, E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Trump, D |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Vianey-Saban, C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Trimble, E R |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Vitoria-Miñana, I |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Reyes-Suárez, D |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ramírez-Lorenzo, T |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tugores, A |
| 773 0# - HOST ITEM ENTRY | |
| Title | Clinical genetics |
| Related parts | vol. 92 |
| -- | no. 3 |
| -- | p. 306-317 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1111/cge.13003">https://doi.org/10.1111/cge.13003</a> |
| Public note | Available from publisher's website |
No items available.