(Q39688450)

14 September 2017

title

Novel double-deletion mutations of the OFD1 gene creating multiple novel transcripts (English)

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14 September 2017

Takeshi Morisawa

1

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14 September 2017

Mariko Yagi

2

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14 September 2017

Agus Surono

3

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14 September 2017

Naoki Yokoyama

4

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14 September 2017

Makoto Ohmori

5

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14 September 2017

Hiroto Terashi

6

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14 September 2017

Masafumi Matsuo

7

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14 September 2017

publication date

2 June 2004

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14 September 2017

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14 September 2017

volume

115

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14 September 2017

issue

2

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14 September 2017

page(s)

97-103

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Four novel mutations in the OFD1 (Cxorf5) gene in Finnish patients with oral-facial-digital syndrome 1

14 September 2017

cites work

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12 December 2020

Order of intron removal influences multiple splice outcomes, including a two-exon skip, in a COL5A1 acceptor-site mutation that results in abnormal pro-alpha1(V) N-propeptides and Ehlers-Danlos syndrome type I

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12 December 2020

Characterization of two unusual RS1 gene deletions segregating in Danish retinoschisis families.

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12 December 2020

OFD1, the gene mutated in oral-facial-digital syndrome type 1, is expressed in the metanephros and in human embryonic renal mesenchymal cells

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12 December 2020

Factor VIII gene inversions causing severe hemophilia A originate almost exclusively in male germ cells

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12 December 2020

Oral-facial-digital syndromes, 1992.

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12 December 2020

Gene localization for oral-facial-digital syndrome type 1 (OFD1:MIM 311200) proximal to DXS85.

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12 December 2020

Neuropathology of oral-facial-digital syndromes

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12 December 2020

Fabry disease: novel alpha-galactosidase A 3'-terminal mutations result in multiple transcripts due to aberrant 3'-end formation

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12 December 2020

Occurrence of multiple aberrantly spliced mRNAs upon a donor splice site mutation that causes familial lipoprotein lipase deficiency

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12 December 2020

Exon skipping during splicing of dystrophin mRNA precursor due to an intraexon deletion in the dystrophin gene of Duchenne muscular dystrophy kobe

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12 December 2020

Exclusive paternal origin of new mutations in Apert syndrome

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12 December 2020

Novel mutations in the Wiskott-Aldrich syndrome protein gene and their effects on transcriptional, translational, and clinical phenotypes

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12 December 2020

A recurrent deletion in the ubiquitously expressed NEMO (IKK-gamma) gene accounts for the vast majority of incontinentia pigmenti mutations

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12 December 2020

Germ-line origins of mutation in families with hemophilia B: the sex ratio varies with the type of mutation

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12 December 2020

Oral-facial-digital syndrome type I: an unusual cause of hereditary cystic kidney disease

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12 December 2020

Spectrum of MECP2 mutations in Rett syndrome

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12 December 2020

Orofaciodigital syndrome type I associated with polycystic kidneys and agenesis of the corpus callosum

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12 December 2020

Occurrence of multiple aberrantly spliced mRNAs of the LDL-receptor gene upon a donor splice site mutation that causes familial hypercholesterolemia (FHBenevento)

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12 December 2020

Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms

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12 December 2020

Analysis of a splice acceptor site mutation which produces multiple splicing abnormalities in the human argininosuccinate synthetase locus

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12 December 2020

Characterization of Cxorf5 (71-7A), a novel human cDNA mapping to Xp22 and encoding a protein containing coiled-coil alpha-helical domains

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12 December 2020

MECP2 mutations in sporadic cases of Rett syndrome are almost exclusively of paternal origin

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12 December 2020

The oral-facial-digital syndrome type 1 (OFD1), a cause of polycystic kidney disease and associated malformations, maps to Xp22.2-Xp22.3.

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12 December 2020

A novel mutation in the neurofibromatosis type 1 (NF1) gene promotes skipping of two exons by preventing exon definition.

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12 December 2020

Rett syndrome from quintuple and triple deletions within the MECP2 deletion hotspot region

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12 December 2020

Selection against mutant alleles in blood leukocytes is a consistent feature in Incontinentia Pigmenti type 2.

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12 December 2020

Identification of the gene for oral-facial-digital type I syndrome

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12 December 2020

Parental origin of de novo MECP2 mutations in Rett syndrome

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12 December 2020

Circular dystrophin RNAs consisting of exons that were skipped by alternative splicing

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12 December 2020

Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A

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12 December 2020

10.1007/S00439-004-1139-1

Identifiers

DOI

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14 September 2017

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