Genetic mapping studies of familial benign hypercalcemia type 3 (FBH3) on chromosome 19q13.

Genetic mapping studies of familial benign hypercalcemia type 3 (FBH3) on chromosome 19q13.

Xehetasun bibliografikoak
Egile Nagusiak:	Cianferotti, L, Pannett, A, Whyte, M, Thakker, R
Formatua:	Journal article
Argitaratua:	1999

Antzeko izenburuak

LINKAGE STUDIES IN A KINDRED FROM OKLAHOMA WITH FAMILIAL BENIGN HYPOCALCIURIC HYPERCALCEMIA (FBH) INDICATE GENETIC-HETEROGENEITY AND A 3RD LOCUS FOR FBH
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Linkage studies in a kindred from Oklahoma, with familial benign (hypocalciuric) hypercalcaemia (FBH) and developmental elevations in serum parathyroid hormone levels, indicate a third locus for FBH.
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Familial benign hypercalcaemia, Oklahoma variant (FBHok): Localisation to chromosome 19q13.
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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.
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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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Spondyloepimetaphyseal dysplasia, Missouri variant, is located on chromosome 11q22.3 and is caused by a mutation of matrix metalloproteinase 13 (MMP13).
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Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3.
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A failure of meiotic chromosome segregation in a fbh1Delta mutant correlates with persistent Rad51-DNA associations.
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Microsatellite association mapping of a primary osteoarthritis susceptibility locus on chromosome 6p12.3-q13.
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A novel C2H2 zinc-finger protein gene (ZNF160) maps to human chromosome 19q13.3-q13.4.
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Cinacalcet rectifies hypercalcemia in a patient with familial hypocalciuric hypercalcemia type 2 (FHH2) caused by a germline loss‐of‐function Gα11 mutation
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Evidence that a locus for familial psoriasis maps to chromosome 4q.
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The F-Box DNA helicase Fbh1 prevents Rhp51-dependent recombination without mediator proteins.
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Common genetic variants at the CRAC1 (HMPS) locus on chromosome 15q13.3 influence colorectal cancer risk.
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High-resolution physical map for chromosome 16q12.1-q13, the Blau syndrome locus
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