Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients. (Record no. 20914387)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02857 a2200913 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250516042155.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201111s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1750-1172 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1186/1750-1172-6-38 |
| 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 | Micale, Lucia |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20111121 |
| 245 00 - TITLE STATEMENT | |
| Title | Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Orphanet journal of rare diseases |
| Date of publication, distribution, etc. | Jun 2011 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 38 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 | Abnormalities, Multiple |
| General subdivision | diagnosis |
| 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 | Codon, Nonsense |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cohort Studies |
| 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 | DNA-Binding Proteins |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Developmental Disabilities |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Face |
| General subdivision | abnormalities |
| 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 | Frameshift Mutation |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genetic Association Studies |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Hematologic Diseases |
| General subdivision | genetics |
| 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 | Intellectual Disability |
| 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 | Neoplasm Proteins |
| 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 | Sequence Analysis, DNA |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Vestibular Diseases |
| General subdivision | genetics |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Augello, Bartolomeo |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Fusco, Carmela |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Selicorni, Angelo |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Loviglio, Maria N |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Silengo, Margherita Cirillo |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Reymond, Alexandre |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gumiero, Barbara |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zucchetti, Federica |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | D'Addetta, Ester V |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Belligni, Elga |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Calcagnì, Alessia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Digilio, Maria C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dallapiccola, Bruno |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Faravelli, Francesca |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Forzano, Francesca |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Accadia, Maria |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bonfante, Aldo |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Clementi, Maurizio |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Daolio, Cecilia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Douzgou, Sofia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ferrari, Paola |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Fischetto, Rita |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Garavelli, Livia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lapi, Elisabetta |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mattina, Teresa |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Melis, Daniela |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Patricelli, Maria G |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Priolo, Manuela |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Prontera, Paolo |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Renieri, Alessandra |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mencarelli, Maria A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Scarano, Gioacchino |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | della Monica, Matteo |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Toschi, Benedetta |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Turolla, Licia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Vancini, Alessandra |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zatterale, Adriana |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gabrielli, Orazio |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zelante, Leopoldo |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Merla, Giuseppe |
| 773 0# - HOST ITEM ENTRY | |
| Title | Orphanet journal of rare diseases |
| Related parts | vol. 6 |
| -- | p. 38 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1186/1750-1172-6-38">https://doi.org/10.1186/1750-1172-6-38</a> |
| Public note | Available from publisher's website |
No items available.