Comparison of human chromosome 19q13 and syntenic region on mouse chromosome 7 reveals absence, in man, of 11.6 Mb containing four mouse calcium-sensing receptor-related sequences: relevance to familial benign hypocalciuric hypercalcaemia type 3.
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Disorders of the calcium-sensing receptor and partner proteins: insights into the molecular basis of calcium homeostasisAdaptor protein-2 sigma subunit mutations causing familial hypocalciuric hypercalcaemia type 3 (FHH3) demonstrate genotype-phenotype correlations, codon bias and dominant-negative effects.Deficiency of the calcium-sensing receptor in the kidney causes parathyroid hormone-independent hypocalciuria.Identification of 70 calcium-sensing receptor mutations in hyper- and hypo-calcaemic patients: evidence for clustering of extracellular domain mutations at calcium-binding sites.
P2860
Comparison of human chromosome 19q13 and syntenic region on mouse chromosome 7 reveals absence, in man, of 11.6 Mb containing four mouse calcium-sensing receptor-related sequences: relevance to familial benign hypocalciuric hypercalcaemia type 3.
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2009 nî lūn-bûn
@nan
2009 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2009年の論文
@ja
2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
@wuu
name
Comparison of human chromosome ...... lciuric hypercalcaemia type 3.
@ast
Comparison of human chromosome ...... lciuric hypercalcaemia type 3.
@en
type
label
Comparison of human chromosome ...... lciuric hypercalcaemia type 3.
@ast
Comparison of human chromosome ...... lciuric hypercalcaemia type 3.
@en
prefLabel
Comparison of human chromosome ...... lciuric hypercalcaemia type 3.
@ast
Comparison of human chromosome ...... lciuric hypercalcaemia type 3.
@en
P2093
P2860
P356
P1476
Comparison of human chromosome ...... lciuric hypercalcaemia type 3.
@en
P2093
Arthur D Conigrave
Jeremy J O Turner
Joanna M Stacey
Luisella Cianferotti
M Andrew Nesbit
Michael P Whyte
Paul T Christie
P2860
P2888
P304
P356
10.1038/EJHG.2009.161
P577
2009-10-07T00:00:00Z