(Q48062833)

8 February 2018

title

A translocation interrupts the COL5A1 gene in a patient with Ehlers-Danlos syndrome and hypomelanosis of Ito. (English)

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8 February 2018

main subject

Ehlers-Danlos syndrome

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author

Peter H. Byers

4

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8 February 2018

Daniel S. Greenspan

7

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8 February 2018

author name string

Toriello HV

1

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8 February 2018

Glover TW

2

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8 February 2018

Takahara K

3

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8 February 2018

Miller DE

5

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8 February 2018

Higgins JV

6

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8 February 2018

language of work or name

English

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publication date

1 July 1996

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8 February 2018

published in

Nature Genetics

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8 February 2018

volume

13

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8 February 2018

page(s)

361-365

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8 February 2018

issue

3

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8 February 2018

https://scigraph.springernature.com/pub.10.1038/ng0796-361

exact match

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cites work

Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus

1 reference

https://api.crossref.org/works/10.1038%2FNG0796-361

Structural organization and genetic localization of the human bone morphogenetic protein 1/mammalian tolloid gene

21 January 2018

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https://api.crossref.org/works/10.1038%2FNG0796-361

Cloning a balanced translocation associated with DiGeorge syndrome and identification of a disrupted candidate gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0796-361

Targeted mutation in the col5a2 gene reveals a regulatory role for type V collagen during matrix assembly

21 January 2018

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https://api.crossref.org/works/10.1038%2FNG0796-361

Collagens: molecular biology, diseases, and potentials for therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0796-361

7 January 2021

A homozygous stop codon in the lysyl hydroxylase gene in two siblings with Ehlers-Danlos syndrome type VI

1 reference

https://api.crossref.org/works/10.1038%2FNG0796-361

7 January 2021

Hypomelanosis of Ito. Case report with involvement of the central nervous system and review of the literature

1 reference

https://api.crossref.org/works/10.1038%2FNG0796-361

7 January 2021

Human collagen gene COL5A1 maps to the q34.2----q34.3 region of chromosome 9, near the locus for nail-patella syndrome

1 reference

https://api.crossref.org/works/10.1038%2FNG0796-361

7 January 2021

Complete structural organization of the human alpha 1 (V) collagen gene (COL5A1): divergence from the conserved organization of other characterized fibrillar collagen genes.

1 reference

https://api.crossref.org/works/10.1038%2FNG0796-361

7 January 2021

Selective amplification of cDNA sequence from total RNA by cassette-ligation mediated polymerase chain reaction (PCR): application to sequencing 6.5 kb genome segment of hantavirus strain B-1

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https://api.crossref.org/works/10.1038%2FNG0796-361

7 January 2021

Isolation of an active human transposable element

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7 January 2021

Origin of the human L1 elements: proposed progenitor genes deduced from a consensus DNA sequence

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7 January 2021

A new retrotransposable human L1 element from the LRE2 locus on chromosome 1q produces a chimaeric insertion

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https://api.crossref.org/works/10.1038%2FNG0796-361

7 January 2021

Characterization of the translocation breakpoint sequences of two DEK-CAN fusion genes present in t(6;9) acute myeloid leukemia and a SET-CAN fusion gene found in a case of acute undifferentiated leukemia

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https://api.crossref.org/works/10.1038%2FNG0796-361

7 January 2021

COL5A1: fine genetic mapping and exclusion as candidate gene in families with nail-patella syndrome, tuberous sclerosis 1, hereditary hemorrhagic telangiectasia, and Ehlers-Danlos Syndrome type II

1 reference

https://api.crossref.org/works/10.1038%2FNG0796-361

7 January 2021

Linkage of the gene that encodes the alpha 1 chain of type V collagen (COL5A1) to type II Ehlers-Danlos syndrome (EDS II)

1 reference

https://api.crossref.org/works/10.1038%2FNG0796-361

7 January 2021

Chromosome mosaicism in hypomelanosis of Ito.

1 reference

https://api.crossref.org/works/10.1038%2FNG0796-361

7 January 2021

BrdU-33258 Hoechst analysis of DNA replication in human lymphocytes with supernumerary or structurally abnormal X chromosomes

1 reference

https://api.crossref.org/works/10.1038%2FNG0796-361

7 January 2021

High-resolution mapping of human chromosome 11 by in situ hybridization with cosmid clones

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https://api.crossref.org/works/10.1038%2FNG0796-361

7 January 2021

A simple method for simultaneous R- or G-banding and fluorescence in situ hybridization of small single-copy genes

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7 January 2021

PCR amplification of up to 35-kb DNA with high fidelity and high yield from lambda bacteriophage templates

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7 January 2021

Effective amplification of long targets from cloned inserts and human genomic DNA

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7 January 2021

Identifiers

DOI

10.1038/NG0796-361

1 reference

8 February 2018

PubMed ID

8673139

1 reference

8 February 2018