Siri B, Olivieri G, Lepri F, Poms M, Goffredo B, Commone A
Orphanet J Rare Dis. 2024; 19(1):3.
PMID: 38167094
PMC: 10763478.
DOI: 10.1186/s13023-023-02997-8.
Behlmann A, Goyal N, Yang X, Chen P, Ankala A
JIMD Rep. 2018; 45:105-110.
PMID: 30570712
PMC: 6336546.
DOI: 10.1007/8904_2018_147.
Lee T, Misaki M, Shimomura H, Tanaka Y, Yoshida S, Murayama K
Hum Genome Var. 2018; 5:22.
PMID: 30131866
PMC: 6095930.
DOI: 10.1038/s41439-018-0022-x.
Seyda A, Chun K, Packman S, Robinson B
J Inherit Metab Dis. 2002; 24(5):551-9.
PMID: 11757583
DOI: 10.1023/a:1012463726810.
Vincent M, Laporte J, Manouvrier-Hanu S, Mandel J
J Med Genet. 1998; 35(3):241-3.
PMID: 9541111
PMC: 1051250.
DOI: 10.1136/jmg.35.3.241.
Topoisomerase I and II consensus sequences in a 17-kb deletion junction of the COL4A5 and COL4A6 genes and immunohistochemical analysis of esophageal leiomyomatosis associated with Alport syndrome.
Ueki Y, Naito I, Oohashi T, Sugimoto M, Seki T, Yoshioka H
Am J Hum Genet. 1998; 62(2):253-61.
PMID: 9463311
PMC: 1376880.
DOI: 10.1086/301703.
Identification of four novel splice site mutations in the ornithine transcarbamylase gene.
Oppliger Leibundgut E, Wermuth B, COLOMBO J
Hum Genet. 1996; 97(2):209-13.
PMID: 8566955
DOI: 10.1007/BF02265267.
Prenatal monitoring of ornithine transcarbamoylase deficiency in two families by DNA analysis.
Matsuura T, Hoshide R, Fukushima M, Sakiyama T, Owada M, Matsuda I
J Inherit Metab Dis. 1993; 16(1):31-8.
PMID: 8487501
DOI: 10.1007/BF00711312.
Four novel gene mutations in five Japanese male patients with neonatal or late onset OTC deficiency: application of PCR-single-strand conformation polymorphisms for all exons and adjacent introns [corrected].
Matsuura T, Hoshide R, Setoyama C, Shimada K, Hase Y, Yanagawa T
Hum Genet. 1993; 92(1):49-56.
PMID: 8365726
DOI: 10.1007/BF00216144.
Parental somatic and germ-line mosaicism for a multiexon deletion with unusual endpoints in a type III collagen (COL3A1) allele produces Ehlers-Danlos syndrome type IV in the heterozygous offspring.
Milewicz D, Witz A, Smith A, Manchester D, Waldstein G, Byers P
Am J Hum Genet. 1993; 53(1):62-70.
PMID: 8317500
PMC: 1682254.
Specificity of PCR-SSCP for detection of the mutant ornithine transcarbamylase (OTC) gene in patients with OTC deficiency.
Hoshide R, Matsuura T, Komaki S, Koike E, Ueno I, Matsuda I
J Inherit Metab Dis. 1993; 16(5):857-62.
PMID: 8295401
DOI: 10.1007/BF00714278.
Expression of four mutant human ornithine transcarbamylase genes in cultured Cos 1 cells relates to clinical phenotypes.
Matsuura T, Hoshide R, Setoyama C, Komaki S, Kiwaki K, Endo F
Hum Genet. 1994; 93(2):129-34.
PMID: 8112735
DOI: 10.1007/BF00210596.
Somatic mosaicism for a newly identified splice-site mutation in a patient with adenosine deaminase-deficient immunodeficiency and spontaneous clinical recovery.
Hirschhorn R, Yang D, Israni A, Huie M, Ownby D
Am J Hum Genet. 1994; 55(1):59-68.
PMID: 8023852
PMC: 1918232.
Genetic linkage heterogeneity in myotubular myopathy.
Samson F, Mesnard L, Heimburger M, Hanauer A, Chevallay M, Mercadier J
Am J Hum Genet. 1995; 57(1):120-6.
PMID: 7611280
PMC: 1801246.
Identification of two new aberrant splicings in the ornithine carbamoyltransferase (OCT) gene in two patients with early and late onset OCT deficiency.
Matsuura T, Hoshide R, Komaki S, Kiwaki K, Endo F, Nakamura S
J Inherit Metab Dis. 1995; 18(3):273-82.
PMID: 7474892
DOI: 10.1007/BF00710415.
Sex ratio of the mutation frequencies in haemophilia A: estimation and meta-analysis.
Rosendaal F, Brocker-Vriends A, van Houwelingen J, Smit C, Varekamp I, Van Dijck H
Hum Genet. 1990; 86(2):139-46.
PMID: 2148300
DOI: 10.1007/BF00197695.
Molecular analysis of hemophilia A mutations in the Finnish population.
Levinson B, Lehesjoki A, de la Chapelle A, Gitschier J
Am J Hum Genet. 1990; 46(1):53-62.
PMID: 2104741
PMC: 1683555.
A novel missense mutation in exon 8 of the ornithine transcarbamylase gene in two unrelated male patients with mild ornithine transcarbamylase deficiency.
Hata A, Matsuura T, Setoyama C, Shimada K, Yokoi T, AKABOSHI I
Hum Genet. 1991; 87(1):28-32.
PMID: 2037279
DOI: 10.1007/BF01213087.
Somatic mosaicism and female-to-female transmission in a kindred with hemophilia B (factor IX deficiency).
Taylor S, Deugau K, Lillicrap D
Proc Natl Acad Sci U S A. 1991; 88(1):39-42.
PMID: 1986380
PMC: 50743.
DOI: 10.1073/pnas.88.1.39.
Somatic origin of inherited haemophilia A.
Brocker-Vriends A, Briet E, Dreesen J, Bakker B, Reitsma P, Pannekoek H
Hum Genet. 1990; 85(3):288-92.
PMID: 1975557
DOI: 10.1007/BF00206748.