(Q54761295)

3 June 2018

title

Extreme androgen resistance in a kindred with a novel insertion/deletion mutation in exon 5 of the androgen receptor gene. (English)

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3 June 2018

author name string

Felipe Vilchis

1

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3 June 2018

Luis Ramos

2

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3 June 2018

Susana Kofman-Alfaro

3

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3 June 2018

Juan Carlos Zenteno

4

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3 June 2018

Juan Pablo Méndez

5

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3 June 2018

Bertha Chávez

6

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3 June 2018

publication date

7 June 2003

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3 June 2018

Journal of Human Genetics

published in

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3 June 2018

volume

48

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3 June 2018

issue

7

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3 June 2018

page(s)

346-351

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3 June 2018

https://scigraph.springernature.com/pub.10.1007/s10038-003-0036-0

exact match

0 references

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Dominant beta-thalassaemia trait in a Portuguese family is caused by a deletion of (G)TGGCTGGTGT(G) and an insertion of (G)GCAG(G) in codons 134, 135, 136 and 137 of the beta-globin gene

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Eight novel mutations of the androgen receptor gene in patients with androgen insensitivity syndrome

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An unusual insertion/deletion in the gene encoding the beta-subunit of propionyl-CoA carboxylase is a frequent mutation in Caucasian propionic acidemia

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12 December 2020

Novel molecular defects in the androgen receptor gene of Mexican patients with androgen insensitivity

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12 December 2020

Phenotypic heterogeneity associated with identical mutations in residue 870 of the androgen receptor

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12 December 2020

Sequence variation in the Fanconi anemia gene FAA

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12 December 2020

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12 December 2020

Molecular basis of androgen insensitivity

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12 December 2020

WT1 exon 1 deletion/insertion mutations in Wilms tumor patients, associated with di- and trinucleotide repeats and deletion hotspot consensus sequences

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12 December 2020

Inherited impairment of nuclear androgen uptake as a cause of familial androgen insensitivity

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12 December 2020

Frameshift mutations and the genetic code. This paper is dedicated to Professor Theodosius Dobzhansky on the occasion of his 66th birthday

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12 December 2020

Mechanisms of divergence and convergence of the human immunoglobulin alpha 1 and alpha 2 constant region gene sequences

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12 December 2020

Characterization of an apparent hotspot for spontaneous mutation in exon 5 of the Chinese hamster APRT gene

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12 December 2020

Serum pattern of different molecular forms of prolactin during normal human pregnancy

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12 December 2020

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12 December 2020

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12 December 2020

Sequence of the intron/exon junctions of the coding region of the human androgen receptor gene and identification of a point mutation in a family with complete androgen insensitivity

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12 December 2020

Genetic basis of endocrine disease. 4. The spectrum of mutations in the androgen receptor gene that causes androgen resistance

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12 December 2020

Molecular defects of the androgen receptor

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12 December 2020

A rapid procedure for extracting genomic DNA from leukocytes

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12 December 2020

Slipped-strand mispairing: a major mechanism for DNA sequence evolution

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12 December 2020

Hemoglobin Montreal: a new variant with an extended beta chain due to a deletion of Asp, Gly, Leu at positions 73, 74, and 75, and an insertion of Ala, Arg, Cys, Gln at the same location

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A novel mechanism generating short deletion/insertions following slippage is suggested by a mutation in the human alpha2-globin gene

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12 December 2020

Novel gene mutations in patients with 1alpha-hydroxylase deficiency that confer partial enzyme activity in vitro

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12 December 2020

10.1007/S10038-003-0036-0

Identifiers

DOI

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3 June 2018

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3 June 2018