A novel X-linked gene, DDP, shows mutations in families with deafness (DFN-1), dystonia, mental deficiency and blindness (Q24311730)

GOA release 2020-03-11

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D Vetrie

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H Jin

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M May

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L Tranebjaerg

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E Kendall

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G Fontán

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J Jackson

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S H Subramony

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F Arena

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H Lubs

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S Smith

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R Stevenson

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C Schwartz

Isolation of cosmid and cDNA clones in the region surrounding the BTK gene at Xq21.3-q22

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language of work or name

English

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publication date

October 1996

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177-80

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cites work

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The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases

20 April 2017

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BTKbase, mutation database for X-linked agammaglobulinemia (XLA).

21 January 2018

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Construction of a 5.2-megabase physical map of the human X chromosome at Xq22 using pulsed-field gel electrophoresis and yeast artificial chromosomes

21 January 2018

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A 6.5-Mb yeast artificial chromosome contig incorporating 33 DNA markers on the human X chromosome at Xq22.

21 January 2018

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Physical mapping of DNA markers in the q13-q22 region of the human X chromosome

21 January 2018

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Familial spastic paraparesis and deafness. A new x-linked neurodegenerative disorder

21 January 2018

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Infantile X-linked ataxia and deafness: a new clinicopathologic entity?

21 January 2018

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Huntington's disease gene (IT15) is widely expressed in human and rat tissues

21 January 2018

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A new X linked recessive deafness syndrome with blindness, dystonia, fractures, and mental deficiency is linked to Xq22

21 January 2018

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7 January 2021

Deficient expression of a B cell cytoplasmic tyrosine kinase in human X-linked agammaglobulinemia

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7 January 2021

An analysis of 5'-noncoding sequences from 699 vertebrate messenger RNAs

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7 January 2021

Familial opticoacoustic nerve degeneration and polyneuropathy

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7 January 2021

Nerve deafness: optic nerve atrophy, and dementia: a new X-linked recessive syndrome?

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7 January 2021

A new X-linked syndrome comprising progressive basal ganglion dysfunction, mental and growth retardation, external ophthalmoplegia, postnatal microcephaly and deafness

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7 January 2021

X-linked ataxia, weakness, deafness, and loss of vision in early childhood with a fatal course

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7 January 2021

Identification of Btk mutations in 20 unrelated patients with X-Iinked agammaglobulinaemia (XLA)

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7 January 2021

Determination of the exon structure of the distal portion of the dystrophin gene by vectorette PCR.

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7 January 2021