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Familial Hypocalciuric Hyperca...
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Familial Hypocalciuric Hypercalcaemia Type 3 (FHH3) Identified in a Family in Northern Ireland Leading to Identification of a Causative Mutation in the Adaptor Protein 2 Sigma 1 (AP2S1) Gene
Bibliografske podrobnosti
Main Authors:
Graham, U
,
Nesbit, M
,
Hannan, F
,
Howles, SA
,
Thakker, R
,
Hunter, S
Format:
Journal article
Izdano:
2013
Zaloga
Opis
Podobne knjige/članki
Knjižničarski pogled
Podobne knjige/članki
Adaptor protein-2 sigma subunit mutations causing familial hypocalciuric hypercalcaemia type 3 (FHH3) demonstrate genotype-phenotype correlations, codon bias and dominant-negative effects.
od: Hannan, F, et al.
Izdano: (2015)
Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3
od: Nesbit, M, et al.
Izdano: (2013)
Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3.
od: Nesbit, M, et al.
Izdano: (2013)
Neonatal hypocalcemic seizures in offspring of a mother with familial hypocalciuric hypercalcemia type 1 (FHH1)
od: Dharmaraj, P, et al.
Izdano: (2020)
Identification of a second kindred with familial hypocalciuric hypercalcemia type 3 (FHH3) narrows localization to a <3.5 megabase pair region on chromosome 19q13.3.
od: Nesbit, M, et al.
Izdano: (2010)