Mapping the gene causing X-linked recessive idiopathic hypoparathyroidism to Xq26-Xq27 by linkage studies.

Mapping the gene causing X-linked recessive idiopathic hypoparathyroidism to Xq26-Xq27 by linkage studies.

Idiopathic hypoparathyroidism has been reported to occur as an X-linked recessive disorder in two multigeneration kindreds. Affected individuals, who are males, suffer from infantile onset of epilepsy and hypocalcemia, which appears to be due to an isolated congenital defect of parathyroid gland dev...

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Xehetasun bibliografikoak
Egile Nagusiak:	Thakker, R, Davies, K, Whyte, M, Wooding, C, O'Riordan, J
Formatua:	Journal article
Hizkuntza:	English
Argitaratua:	1990

Antzeko izenburuak

MAPPING OF THE X-LINKED IDIOPATHIC HYPOPARATHYROID GENE TO XQ26-XQ27 BY LINKAGE STUDIES
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An interstitial deletion-insertion involving chromosomes 2p25.3 and Xq27.1, near SOX3, causes X-linked recessive hypoparathyroidism.
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Linear order of new and established DNA markers around the fragile site at Xq27.3.
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Construction of a YAC contig spanning the Xq13.3 subband.
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Population genetics of the FRAXE and FRAXF GCC repeats, and a novel CGG repeat, in Xq28.
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Localization of MRX82: a new nonsyndromic X-linked mental retardation locus to Xq24-q25 in a Basque family.
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Klinefelter-like phenotype and primary infertility in a male with a paracentric Xq inversion.
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Tuber Cinereum Diverticula in a 28-Month-Old with Xq21 Deletion Syndrome
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Dynamic Performance of a Hybrid Synchronous Machine with Ultra-High XD/XQ Ratio
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