MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement. (Record no. 18512353)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02026 a2200613 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250515151455.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 200904s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1098-1004 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1002/humu.20924 |
| 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 | Brancati, Francesco |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20090410 |
| 245 00 - TITLE STATEMENT | |
| Title | MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Human mutation |
| Date of publication, distribution, etc. | Feb 2009 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | E432-42 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Abnormalities, Multiple |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Amino Acid Sequence |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Base Sequence |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | DNA Mutational Analysis |
| 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 | Liver |
| General subdivision | pathology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Magnetic Resonance Imaging |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Membrane Proteins |
| General subdivision | chemistry |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Molecular Sequence Data |
| 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 | Phenotype |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | RNA Splice Sites |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Syndrome |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Iannicelli, Miriam |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Travaglini, Lorena |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mazzotta, Annalisa |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bertini, Enrico |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Boltshauser, Eugen |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | D'Arrigo, Stefano |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Emma, Francesco |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Fazzi, Elisa |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gallizzi, Romina |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gentile, Mattia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Loncarevic, Damir |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mejaski-Bosnjak, Vlatka |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pantaleoni, Chiara |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rigoli, Luciana |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Salpietro, Carmelo D |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Signorini, Sabrina |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Stringini, Gilda Rita |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Verloes, Alain |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zabloka, Dominika |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dallapiccola, Bruno |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gleeson, Joseph G |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Valente, Enza Maria |
| 773 0# - HOST ITEM ENTRY | |
| Title | Human mutation |
| Related parts | vol. 30 |
| -- | no. 2 |
| -- | p. E432-42 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1002/humu.20924">https://doi.org/10.1002/humu.20924</a> |
| Public note | Available from publisher's website |
No items available.