Recurrent homozygous damaging mutation in (Record no. 30176617)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01915 a2200589 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250518063221.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 202102s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1468-6244 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1136/jmedgenet-2019-106409 |
| 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 | Ghosh, Shereen Georges |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20210204 |
| 245 00 - TITLE STATEMENT | |
| Title | Recurrent homozygous damaging mutation in |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Journal of medical genetics |
| Date of publication, distribution, etc. | 04 2020 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 274-282 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Amino Acid Sequence |
| General subdivision | genetics |
| 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 | Consanguinity |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Endoplasmic Reticulum |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Exons |
| 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 | Genetic Predisposition to Disease |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Homozygote |
| 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 | Male |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Membrane Proteins |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Microcephaly |
| General subdivision | genetics |
| 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 | Protein Disulfide-Isomerases |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Protein Folding |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Thioredoxins |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Exome Sequencing |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wang, Lu |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Breuss, Martin W |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Green, Joshua D |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Stanley, Valentina |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Yang, Xiaoxu |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ross, Danica |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Traynor, Bryan J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Alhashem, Amal M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Azam, Matloob |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Selim, Laila |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bastaki, Laila |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Elbastawisy, Hanan I |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Temtamy, Samia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zaki, Maha |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gleeson, Joseph G |
| 773 0# - HOST ITEM ENTRY | |
| Title | Journal of medical genetics |
| Related parts | vol. 57 |
| -- | no. 4 |
| -- | p. 274-282 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1136/jmedgenet-2019-106409">https://doi.org/10.1136/jmedgenet-2019-106409</a> |
| Public note | Available from publisher's website |
No items available.