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A family with hypoparathyroidi...
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A family with hypoparathyroidism, deafness and renal anomaly syndrome - Clinical and molecular studies
Bibliografiske detaljer
Main Authors:
Dobbie, A
,
Haan, E
,
Nesbit, M
,
Bowl, M
,
Thakker, R
Format:
Journal article
Udgivet:
2001
Beholdninger
Beskrivelse
Lignende værker
Medarbejdervisning
Lignende værker
Characterization of GATA3 mutations in the hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome.
af: Nesbit, M, et al.
Udgivet: (2004)
Molecular diagnosis of hypoparathyroidism: 2 illustrative cases
af: Hampson, G, et al.
Udgivet: (2003)
Functional analysis of a novel GATA3 mutation in a family with the hypoparathyroidism, deafness, and renal dysplasia syndrome.
af: Zahirieh, A, et al.
Udgivet: (2005)
Clinical case seminar: Functional analysis of a novel GATA3 mutation in a family with the hypoparathyroidism, deafness, and renal dysplasia syndrome
af: Zahirieh, A, et al.
Udgivet: (2005)
A missense GATA3 mutation, Thr272Ile, causes the hypoparathyroidism, deafness, and renal dysplasia syndrome.
af: Gaynor, K, et al.
Udgivet: (2009)