CYP21 analysis and phenotype/genotype relationship in the screened population of the Italian Emilia-Romagna region (Q57009922)

1

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E Cacciari

2

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L Baldazzi

3

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L Tartaglia

4

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A Cassio

5

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V Mantovani

6

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S Piazzi

7

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A Cicognani

8

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P Pirazzoli

9

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B Mainetti

10

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F Zappulla

11

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Emanuele Cacciari

2

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Lilia Baldazzi

3

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Lucia Tartaglia

4

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Alessandra Cassio

5

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Vilma Mantovani

6

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Sandro Piazzi

7

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Alessandro Cicognani

8

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Piero Pirazzoli

9

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Benedetta Mainetti

10

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Franco Zappulla

Two mutations causing complete androgen insensitivity: a frame-shift in the steroid binding domain and a Cys→Phe substitution in the second zinc finger of the androgen receptor

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language of work or name

English

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publication date

July 2000

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published in

Clinical Endocrinology

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volume

53

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issue

1

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page(s)

117-25

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117-125

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cites work

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Neonatal screening for congenital adrenal hyperplasia

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Complete nucleotide sequence of two steroid 21-hydroxylase genes tandemly arranged in human chromosome: a pseudogene and a genuine gene

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Aberrant splicing and missense mutations cause steroid 21-hydroxylase [P-450(C21)] deficiency in humans: possible gene conversion products

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The human gene mutation database

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Rearrangements and point mutations of P450c21 genes are distinguished by five restriction endonuclease haplotypes identified by a new probing strategy in 57 families with congenital adrenal hyperplasia

21 January 2018

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Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: Newborn screening and its relationship to the diagnosis and treatment of the disorder

21 January 2018

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Alternate promoters and alternate splicing of human tenascin-X, a gene with 5' and 3' ends buried in other genes

21 January 2018

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Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency

21 January 2018

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Molecular analysis of patient and carrier genes with congenital steroid 21-hydroxylase deficiency by using polymerase chain reaction and single strand conformation polymorphism

21 January 2018

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Mutations of the CYP21 gene in nonclassical steroid 21-hydroxylase deficiency in Japan

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Results of Screening 1.9 Million Texas Newborns for 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia

21 January 2018

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A mutation (Pro-30 to Leu) in CYP21 represents a potential nonclassic steroid 21-hydroxylase deficiency allele

21 January 2018

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Structure of human steroid 21-hydroxylase genes

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Mutations of P450c21 (steroid 21-hydroxylase) at Cys428, Val281, and Ser268 result in complete, partial, or no loss of enzymatic activity, respectively

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