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Localisation of X linked recessive idiopathic hypoparathyroidism to a 1.5 Mb region on Xq26-q27.

X linked recessive idiopathic hypoparathyroidism (HPT) has been observed in two kindreds from Missouri, USA. Affected subjects, who are males, suffer from infantile onset of epilepsy and hypocalcaemia, which appears to be the result of an isolated congenital defect of parathyroid gland development;...

Täydet tiedot

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Bibliografiset tiedot
Päätekijät: Trump, D, Dixon, P H, Mumm, S, Wooding, C, Davies, K E, Schlessinger, D, Whyte, M P, Thakker, R V
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: 1998
Aiheet:
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC1051482/
https://ncbi.nlm.nih.gov/pubmed/9832036
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