Loss of α1β1 soluble guanylate cyclase, the major nitric oxide receptor, leads to moyamoya and achalasia. (Record no. 23597236)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02421 a2200757 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250516201028.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201405s 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.2014.01.018 |
| 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 | Hervé, Dominique |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20140501 |
| 245 00 - TITLE STATEMENT | |
| Title | Loss of α1β1 soluble guanylate cyclase, the major nitric oxide receptor, leads to moyamoya and achalasia. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | American journal of human genetics |
| Date of publication, distribution, etc. | Mar 2014 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 385-94 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 | 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 | Blood Platelets |
| General subdivision | metabolism |
| 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 | Cyclic GMP |
| General subdivision | metabolism |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Esophageal Achalasia |
| General subdivision | metabolism |
| 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 | Genotype |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Guanylate Cyclase |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Homozygote |
| 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 | Moyamoya Disease |
| General subdivision | metabolism |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Muscle, Smooth, Vascular |
| 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 | Nitric Oxide |
| General subdivision | chemistry |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Pedigree |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Platelet Adhesiveness |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Platelet Aggregation |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Receptors, Cytoplasmic and Nuclear |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Soluble Guanylyl Cyclase |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Young Adult |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Philippi, Anne |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Belbouab, Reda |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zerah, Michel |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Chabrier, Stéphane |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Collardeau-Frachon, Sophie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bergametti, Francoise |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Essongue, Aurore |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Berrou, Eliane |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Krivosic, Valérie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sainte-Rose, Christian |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Houdart, Emmanuel |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Adam, Frédéric |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Billiemaz, Kareen |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lebret, Marilyne |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Roman, Sabine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Passemard, Sandrine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Boulday, Gwenola |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Delaforge, Audrey |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Guey, Stéphanie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dray, Xavier |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Chabriat, Hugues |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Brouckaert, Peter |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bryckaert, Maryjke |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tournier-Lasserve, Elisabeth |
| 773 0# - HOST ITEM ENTRY | |
| Title | American journal of human genetics |
| Related parts | vol. 94 |
| -- | no. 3 |
| -- | p. 385-94 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1016/j.ajhg.2014.01.018">https://doi.org/10.1016/j.ajhg.2014.01.018</a> |
| Public note | Available from publisher's website |
No items available.