Different mutations in the NF1 gene are associated with Neurofibromatosis-Noonan syndrome (NFNS). (Record no. 12499300)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01645 a2200457 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250514064601.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 200312s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1552-4825 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1002/ajmg.a.20023 |
| 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 | Baralle, Diana |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20031224 |
| 245 00 - TITLE STATEMENT | |
| Title | Different mutations in the NF1 gene are associated with Neurofibromatosis-Noonan syndrome (NFNS). |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | American journal of medical genetics. Part A |
| Date of publication, distribution, etc. | May 2003 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 1-8 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
| 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 | Adult |
| 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 | DNA Mutational Analysis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genes, Neurofibromatosis 1 |
| 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 | Intracellular Signaling Peptides and Proteins |
| 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 | Neurofibromatoses |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Noonan Syndrome |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Protein Tyrosine Phosphatase, Non-Receptor Type 1 |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Protein Tyrosine Phosphatase, Non-Receptor Type 11 |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Protein Tyrosine Phosphatases |
| General subdivision | genetics |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mattocks, Chris |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kalidas, Kamini |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Elmslie, Frances |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Whittaker, Joanne |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lees, Melissa |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ragge, Nicola |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Patton, Michael A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Winter, Robin M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | ffrench-Constant, Charles |
| 773 0# - HOST ITEM ENTRY | |
| Title | American journal of medical genetics. Part A |
| Related parts | vol. 119A |
| -- | no. 1 |
| -- | p. 1-8 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1002/ajmg.a.20023">https://doi.org/10.1002/ajmg.a.20023</a> |
| Public note | Available from publisher's website |
No items available.