Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal-recessive cone-rod dystrophy and amelogenesis imperfecta. (Record no. 18644725)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02037 a2200613 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250515160026.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 200903s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1537-6605 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1016/j.ajhg.2009.01.009 |
| 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 | Parry, David A |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20090323 |
| 245 00 - TITLE STATEMENT | |
| Title | Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal-recessive cone-rod dystrophy and amelogenesis imperfecta. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | American journal of human genetics |
| Date of publication, distribution, etc. | Feb 2009 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 266-73 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 | Amelogenesis Imperfecta |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Arabs |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cation Transport Proteins |
| General subdivision | genetics |
| 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 | Female |
| 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 | Middle East |
| 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 | Polymorphism, Single Nucleotide |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Retinal Cone Photoreceptor Cells |
| General subdivision | pathology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Retinal Rod Photoreceptor Cells |
| General subdivision | pathology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Retinitis Pigmentosa |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Syndrome |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Tooth Abnormalities |
| General subdivision | genetics |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mighell, Alan J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | El-Sayed, Walid |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Shore, Roger C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Jalili, Ismail K |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dollfus, Hélène |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bloch-Zupan, Agnes |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Carlos, Roman |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Carr, Ian M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Downey, Louise M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Blain, Katharine M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mansfield, David C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Shahrabi, Mehdi |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Heidari, Mansour |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Aref, Parissa |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Abbasi, Mohsen |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Michaelides, Michel |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Moore, Anthony T |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kirkham, Jennifer |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Inglehearn, Chris F |
| 773 0# - HOST ITEM ENTRY | |
| Title | American journal of human genetics |
| Related parts | vol. 84 |
| -- | no. 2 |
| -- | p. 266-73 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1016/j.ajhg.2009.01.009">https://doi.org/10.1016/j.ajhg.2009.01.009</a> |
| Public note | Available from publisher's website |
No items available.