threonine and Ambiguous Genitalia

threonine has been researched along with Ambiguous Genitalia in 2 studies

Research

Studies (2)

Timeframe	Studies, this research(%)	All Research%
pre-1990	0 (0.00)	18.7374
1990's	2 (100.00)	18.2507
2000's	0 (0.00)	29.6817
2010's	0 (0.00)	24.3611
2020's	0 (0.00)	2.80

Authors

Authors	Studies
Aagenaes, O; Knudtzon, J; Magnus, O; Nordenskjöld, A	1
Ahlgren, R; Simpson, ER; Waterman, MR; Winter, JS; Yanase, T	1

Other Studies

2 other study(ies) available for threonine and Ambiguous Genitalia

Article	Year
Homozygous mutation (A228T) in the 5alpha-reductase type 2 gene in a boy with 5alpha-reductase deficiency: genotype-phenotype correlations. American journal of medical genetics, 1998, Nov-16, Volume: 80, Issue:3 Topics: Adolescent; Alanine; Cholestenone 5 alpha-Reductase; Disorders of Sex Development; Female; Genotype; Humans; Male; Mutation; Oxidoreductases; Phenotype; Threonine	1998
Compound heterozygous mutations (Arg 239----stop, Pro 342----Thr) in the CYP17 (P45017 alpha) gene lead to ambiguous external genitalia in a male patient with partial combined 17 alpha-hydroxylase/17,20-lyase deficiency. The Journal of clinical endocrinology and metabolism, 1992, Volume: 74, Issue:3 Topics: Adrenal Hyperplasia, Congenital; Aldehyde-Lyases; Alleles; Amino Acid Sequence; Animals; Arginine; Base Sequence; Blotting, Southern; Cell Line; Child; Cytochrome P-450 Enzyme System; Disorders of Sex Development; DNA; Heterozygote; Humans; Leukocytes; Male; Molecular Sequence Data; Mutation; Oligodeoxyribonucleotides; Polymerase Chain Reaction; Proline; Restriction Mapping; Steroid 17-alpha-Hydroxylase; Threonine; Transfection	1992

Article

Year

Homozygous mutation (A228T) in the 5alpha-reductase type 2 gene in a boy with 5alpha-reductase deficiency: genotype-phenotype correlations.

American journal of medical genetics, 1998, Nov-16, Volume: 80, Issue:3

Topics: Adolescent; Alanine; Cholestenone 5 alpha-Reductase; Disorders of Sex Development; Female; Genotype; Humans; Male; Mutation; Oxidoreductases; Phenotype; Threonine

1998

Compound heterozygous mutations (Arg 239----stop, Pro 342----Thr) in the CYP17 (P45017 alpha) gene lead to ambiguous external genitalia in a male patient with partial combined 17 alpha-hydroxylase/17,20-lyase deficiency.

The Journal of clinical endocrinology and metabolism, 1992, Volume: 74, Issue:3

Topics: Adrenal Hyperplasia, Congenital; Aldehyde-Lyases; Alleles; Amino Acid Sequence; Animals; Arginine; Base Sequence; Blotting, Southern; Cell Line; Child; Cytochrome P-450 Enzyme System; Disorders of Sex Development; DNA; Heterozygote; Humans; Leukocytes; Male; Molecular Sequence Data; Mutation; Oligodeoxyribonucleotides; Polymerase Chain Reaction; Proline; Restriction Mapping; Steroid 17-alpha-Hydroxylase; Threonine; Transfection

1992