L. Pajunen

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New lethal disease involving type I and III collagen defect resembling geroderma osteodysplastica, De Barsy syndrome, and Ehlers-Danlos syndrome IV.

J. Risteli, S. Kauppila, K. Vuopala, 1998, Journal of medical genetics.

Assignment of the gene coding for the alpha-subunit of prolyl 4-hydroxylase to human chromosome region 10q21.3-23.1.

D. Sheer, K. Kivirikko, T. Pihlajaniemi, 1989, American journal of human genetics.

Regional assignment of the human gene coding for a multifunctional polypeptide (P4HB) acting as the beta-subunit of prolyl 4-hydroxylase and the enzyme protein disulfide isomerase to 17q25.

D. Sheer, A. Goddard, K. Kivirikko, 1991, Cytogenetics and cell genetics.

A splice-site mutation that induces exon skipping and reduction in lysyl hydroxylase mRNA levels but does not create a nonsense codon in Ehlers-Danlos syndrome type VI.

S. Kellokumpu, K. Kivirikko, T. Hautala, 1998, DNA and cell biology.

Alu-Alu recombination results in a duplication of seven exons in the lysyl hydroxylase gene in a patient with the type VI variant of Ehlers-Danlos syndrome.

K. Kivirikko, T. Hautala, R. Myllylä, 1994, American journal of human genetics.

Increases in mRNA concentrations of the alpha and beta subunits of prolyl 4-hydroxylase accompany increased gene expression of type IV collagen during differentiation of mouse F9 cells.

T. Pihlajaniemi, K. Kivirikko, T. Helaakoski, 1990, The Journal of biological chemistry.

Polyclonal and monoclonal antibodies to human lysyl hydroxylase and studies on the molecular heterogeneity of the enzyme.

K. Kivirikko, R. Myllylä, L. Pajunen, 1988, The Biochemical journal.

Assignment of the gene coding for both the beta-subunit of prolyl 4-hydroxylase and the enzyme disulfide isomerase to human chromosome region 17p11----qter.

K. Tasanen, K. Kivirikko, T. Pihlajaniemi, 1988, Cytogenetics and cell genetics.

Congenital subglottic stenosis in two unrelated pairs of siblings

T. Kaukola, O. Linna, K. Hyrynkangas, 2004, Acta paediatrica.

NOR activity in two families with balanced D;D translocations and numerous consecutive miscarriages.

A. de la Chapelle, N. Gahmberg, L. Pajunen, 2009, Hereditas.

Clinical characterization, genetic mapping and whole-genome sequence analysis of a novel autosomal recessive intellectual disability syndrome.

L. Aaltonen, Kimmo Palin, A. Karhu, 2014, European journal of medical genetics.

Effect of a ten years' laboratory rearing on the hibernation of garden dormouse, eliomys quercinus

L. Pajunen, 1981 .

Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa.

J. Ganesh, P. Robinson, S. Mundlos, 2015, American journal of human genetics.

Immunochemical analysis of the N-acetyl hexosaminidases in human-mouse hybrids made using a double selective system.

D. Swallow, E. Solomon, L. Pajunen, 1977, Cytogenetics and cell genetics.

University of Groningen Recurrent De Novo Mutations Affecting Residue Arg1 38 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa Fischer-Zirnsak,

J. Ganesh, P. Robinson, S. Mundlos, 2022 .

POLG1 p.R722H mutation associated with multiple mtDNA deletions and a neurological phenotype

S. Finnilä, K. Majamaa, I. Hassinen, 2010, BMC neurology.

Regional mapping of chromosome 15.

S. Povey, M. Bobrow, D. Swallow, 1978, Cytogenetics and cell genetics.

Targeted next-generation sequencing reveals further genetic heterogeneity in axonal Charcot–Marie–Tooth neuropathy and a mutation in HSPB1

S. Kiuru-Enari, H. Tyynismaa, M. Auranen, 2013, European Journal of Human Genetics.

Molecular cloning of chick lysyl hydroxylase. Little homology in primary structure to the two types of subunit of prolyl 4-hydroxylase.

K. Kivirikko, T. Pihlajaniemi, T. Turpeenniemi‐Hujanen, 1991, The Journal of biological chemistry.

Ehlers-Danlos syndrome IV . osteodysplastica , De Barsy syndrome , and collagen defect resembling geroderma New lethal disease involving type I and III

J. Risteli, S. Kauppila, K. Vuopala, 2022 .

Radioimmunoassay for H-Y antigen.

A. de la Chapelle, L. Andersson, A. Nemlander, 1981, JIM - Journal of Immunological Methods.

Assignment oftheGeneCodingforthea-Subunit ofProlyl 4-Hydroxylase toHumanChromosomeRegion10q21.3-23.1

T. Pihlajaniemi, E. Solomon, T. Helaakoski, 1989 .