Unknown mutations and genotype/phenotype correlations of autosomal recessive congenital ichthyosis in patients from Saudi Arabia and Pakistan. (Record no. 29212479)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02009 a2200601 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250518014808.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201905s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 2324-9269 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1002/mgg3.539 |
| 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 | Lima Cunha, Dulce |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20190508 |
| 245 00 - TITLE STATEMENT | |
| Title | Unknown mutations and genotype/phenotype correlations of autosomal recessive congenital ichthyosis in patients from Saudi Arabia and Pakistan. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Molecular genetics & genomic medicine |
| Date of publication, distribution, etc. | 03 2019 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | e539 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 | ATP-Binding Cassette Transporters |
| General subdivision | genetics |
| 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 | Child |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cytochrome P-450 Enzyme System |
| General subdivision | genetics |
| 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 | Genes, Recessive |
| 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 | Ichthyosiform Erythroderma, Congenital |
| General subdivision | epidemiology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Lipoxygenase |
| General subdivision | genetics |
| 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 Rate |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Pakistan |
| 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 | Receptors, Cell Surface |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Saudi Arabia |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Transglutaminases |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Young Adult |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Alakloby, Omar Mohammed |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gruber, Robert |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kakar, Naseebullah |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ahmad, Jamil |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Alawbathani, Salem |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Plank, Roswitha |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Eckl, Katja |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Krabichler, Birgit |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Altmüller, Janine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Nürnberg, Peter |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zschocke, Johannes |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Borck, Guntram |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Schmuth, Matthias |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Alabdulkareem, Adnan S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Abdulaziz Alnutaifi, Kholood |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hennies, Hans Christian |
| 773 0# - HOST ITEM ENTRY | |
| Title | Molecular genetics & genomic medicine |
| Related parts | vol. 7 |
| -- | no. 3 |
| -- | p. e539 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1002/mgg3.539">https://doi.org/10.1002/mgg3.539</a> |
| Public note | Available from publisher's website |
No items available.