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.

doi:10.1038/ejhg.2009.161

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Article

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.

European journal of human genetics : EJHG - 1 Apr 2010

Hannan Fadil M, Nesbit M Andrew, Turner Jeremy J O, Stacey Joanna M, Cianferotti Luisella, Christie Paul T, Conigrave Arthur D, Whyte Michael P, Thakker Rajesh V

Abstract excerpt

Familial benign hypocalciuric hypercalcaemia (FBHH) is a genetically heterogeneous disorder that consists of three designated types, FBHH1, FBHH2 and FBHH3, whose chromosomal locations are 3q21.1, 19p and 19q13, respectively. FBHH1 is caused by mutations of a calcium-sensing receptor (CaSR), but the abnormalities underlying FBHH2 and FBHH3 are unknown. FBHH3, also referred to as the Oklahoma variant (FBHH(Ok)),...

Topics

Adult
Animals
Calcium
Chromosome Deletion
Chromosome Mapping
Chromosomes, Human, Pair 19
Female
Genetic Linkage
Genetic Predisposition to Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Haplotypes

Humans

Hypercalcemia

Male

Mice

Microsatellite Repeats

Pedigree

Polymorphism, Single Nucleotide

Receptors, Calcium-Sensing

Source

Open in PubMed Open full text

Identifiers

PMID: 19809483
DOI: 10.1038/ejhg.2009.161
PMCID: PMC2842244

Provenance

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