Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium. (Record no. 10920695)
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| fixed length control field | 02527 a2200829 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250513220605.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 200010s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1061-4036 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1038/79063 |
| 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 | Seri, M |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20001030 |
| 245 00 - TITLE STATEMENT | |
| Title | Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Nature genetics |
| Date of publication, distribution, etc. | Sep 2000 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 103-5 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S. |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Alleles |
| 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 | Animals |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Blood Platelet Disorders |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cataract |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Chickens |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Chromosomes, Human, Pair 22 |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Crystallography, X-Ray |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cytoplasm |
| General subdivision | metabolism |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genotype |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Hearing Loss, Sensorineural |
| 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 | Leukocytes |
| General subdivision | pathology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Models, Molecular |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Molecular Motor Proteins |
| 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 | Muscle, Smooth |
| General subdivision | metabolism |
| 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 | Mutation, Missense |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Myosin Heavy Chains |
| General subdivision | chemistry |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Myosins |
| General subdivision | chemistry |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Nephritis |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Neutrophils |
| General subdivision | pathology |
| 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 | Protein Conformation |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Protein Structure, Tertiary |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Sequence Homology, Amino Acid |
| 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 | Thrombocytopenia |
| General subdivision | genetics |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cusano, R |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gangarossa, S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Caridi, G |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bordo, D |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lo Nigro, C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ghiggeri, G M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ravazzolo, R |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Savino, M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Del Vecchio, M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | d'Apolito, M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Iolascon, A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zelante, L L |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Savoia, A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Balduini, C L |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Noris, P |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Magrini, U |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Belletti, S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Heath, K E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Babcock, M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Glucksman, M J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Aliprandis, E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bizzaro, N |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Desnick, R J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Martignetti, J A |
| 773 0# - HOST ITEM ENTRY | |
| Title | Nature genetics |
| Related parts | vol. 26 |
| -- | no. 1 |
| -- | p. 103-5 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1038/79063">https://doi.org/10.1038/79063</a> |
| Public note | Available from publisher's website |
No items available.