The alpha-galactosidase A p.Arg118Cys variant does not cause a Fabry disease phenotype: data from individual patients and family studies. (Record no. 24422591)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02077 a2200637 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517004901.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201510s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1096-7206 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1016/j.ymgme.2014.11.004 |
| 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 | Ferreira, Susana |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20151028 |
| 245 00 - TITLE STATEMENT | |
| Title | The alpha-galactosidase A p.Arg118Cys variant does not cause a Fabry disease phenotype: data from individual patients and family studies. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Molecular genetics and metabolism |
| Date of publication, distribution, etc. | Feb 2015 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 248-58 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 | 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 Substitution |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Codon |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Fabry Disease |
| General subdivision | complications |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Family Health |
| 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 | Gene Frequency |
| 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 | Kidney |
| General subdivision | pathology |
| 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 | Middle Aged |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Molecular Structure |
| 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 | Phenotype |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | alpha-Galactosidase |
| General subdivision | genetics |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ortiz, Alberto |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Germain, Dominique P |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Viana-Baptista, Miguel |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Caldeira-Gomes, António |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Camprecios, Marta |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Fenollar-Cortés, Maria |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gallegos-Villalobos, Ángel |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Garcia, Diego |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | García-Robles, José Antonio |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Egido, Jesús |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gutiérrez-Rivas, Eduardo |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Herrero, José Antonio |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mas, Sebastián |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Oancea, Raluca |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Péres, Paloma |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Salazar-Martín, Luis Manuel |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Solera-Garcia, Jesús |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Alves, Helena |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Garman, Scott C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Oliveira, João Paulo |
| 773 0# - HOST ITEM ENTRY | |
| Title | Molecular genetics and metabolism |
| Related parts | vol. 114 |
| -- | no. 2 |
| -- | p. 248-58 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1016/j.ymgme.2014.11.004">https://doi.org/10.1016/j.ymgme.2014.11.004</a> |
| Public note | Available from publisher's website |
No items available.