A novel deletion mutation in the arginine vasopressin receptor 2 gene and skewed X chromosome inactivation in a female patient with congenital nephrogenic diabetes insipidus.
about
AVPR2 variants and mutations in nephrogenic diabetes insipidus: review and missense mutation significanceClinical overview of nephrogenic diabetes insipidus based on a nationwide survey in Japan.Pathophysiology, diagnosis and management of nephrogenic diabetes insipidus.Partial nephrogenic diabetes insipidus caused by a novel mutation in the AVPR2 gene.Novel mutations associated with nephrogenic diabetes insipidus. A clinical-genetic study.Nephrogenic diabetes insipidus in a patient with L1 syndrome: a new report of a contiguous gene deletion syndrome including L1CAM and AVPR2.An unusual case of hereditary nephrogenic diabetes insipidus (HNDI) affecting mother and daughter.
P2860
Q28291825-4B5B1079-9204-48BC-A395-249B4551F607Q34345836-424931AE-977F-4EE1-A58F-4CEE605C4BE8Q38528569-0A8D0CA8-D0FF-45E6-9AC0-6D7E8FB6C7F5Q46946097-1E40DCB3-F6A4-41CF-B586-DD0127E62444Q50447371-3B3D329C-60E3-4EAA-929B-AF12F5A3CD4DQ51954138-F96A0137-1B84-421A-80F4-56DBEB3DBB74Q53394497-B4296A85-66E5-4C06-A556-32D6A591837C
P2860
A novel deletion mutation in the arginine vasopressin receptor 2 gene and skewed X chromosome inactivation in a female patient with congenital nephrogenic diabetes insipidus.
description
2004 nî lūn-bûn
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2004年の論文
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name
A novel deletion mutation in t ...... ephrogenic diabetes insipidus.
@en
A novel deletion mutation in t ...... ephrogenic diabetes insipidus.
@nl
type
label
A novel deletion mutation in t ...... ephrogenic diabetes insipidus.
@en
A novel deletion mutation in t ...... ephrogenic diabetes insipidus.
@nl
prefLabel
A novel deletion mutation in t ...... ephrogenic diabetes insipidus.
@en
A novel deletion mutation in t ...... ephrogenic diabetes insipidus.
@nl
P2093
P2860
P356
P1476
A novel deletion mutation in t ...... ephrogenic diabetes insipidus.
@en
P2093
P2860
P2888
P304
P356
10.1007/BF03346263
P577
2004-02-01T00:00:00Z