(Q43622804)

25 November 2017

title

Isolated growth hormone (GH) deficiency due to compound heterozygosity for two new mutations in the GH-releasing hormone receptor gene (English)

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25 November 2017

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5

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25 November 2017

Salvatori R

1

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25 November 2017

Fan X

series ordinal

2

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25 November 2017

Phillips JA 3rd

series ordinal

3

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25 November 2017

Prince M

series ordinal

4

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25 November 2017

language of work or name

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1 May 2001

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25 November 2017

published in

Clinical Endocrinology

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25 November 2017

volume

54

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25 November 2017

issue

5

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25 November 2017

page(s)

681-687

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A DNA Polymorphism Discovery Resource for Research on Human Genetic Variation: Table 1

25 November 2017

cites work

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2265.2001.01273.X

Identification of binding domains of the growth hormone-releasing hormone receptor by analysis of mutant and chimeric receptor proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2265.2001.01273.X

Mutation detection by denaturing gradient gel electrophoresis (DGGE).

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2265.2001.01273.X

Molecular and cell biology of the growth hormone-releasing hormone receptor

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2265.2001.01273.X

The mutant growth hormone-releasing hormone (GHRH) receptor of the little mouse does not bind GHRH

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2265.2001.01273.X

GHRH receptor of little mice contains a missense mutation in the extracellular domain that disrupts receptor function

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2265.2001.01273.X

Familial growth hormone deficiency with mutated GHRH receptor gene: clinical and hormonal findings in homozygous and heterozygous individuals from Itabaianinha

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2265.2001.01273.X

Structure and functional expression of a complementary DNA for porcine growth hormone-releasing hormone receptor

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2265.2001.01273.X

Cloning and characterization of the 5'-flanking region of the human growth hormone-releasing hormone receptor gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2265.2001.01273.X

Rapid and efficient site-specific mutagenesis without phenotypic selection

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2265.2001.01273.X

A nonsense mutation of the human luteinizing hormone receptor gene in Leydig cell hypoplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2265.2001.01273.X

Deficient guanine nucleotide regulatory unit activity in cultured fibroblast membranes from patients with pseudohypoparathyroidism type I. A cause of impaired synthesis of 3',5'-cyclic AMP by intact and broken cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2265.2001.01273.X

Phenotype and genetic analysis of a syndrome caused by an inactivating mutation in the growth hormone-releasing hormone receptor: Dwarfism of Sindh

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2265.2001.01273.X

Familial dwarfism due to a novel mutation of the growth hormone-releasing hormone receptor gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2265.2001.01273.X

Three New Mutations in the Gene for the Growth Hormone (GH)-Releasing Hormone Receptor in Familial Isolated GH Deficiency Type IB

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2265.2001.01273.X

Nonsense mutation in the human growth hormone-releasing hormone receptor causes growth failure analogous to the little (lit) mouse

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2265.2001.01273.X

Functional GHRH receptor carboxyl terminal isoforms in normal and dwarf (dw) rats

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2265.2001.01273.X

10.1046/J.1365-2265.2001.01273.X

21 January 2018

Identifiers

DOI

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25 November 2017

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