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Human mutation

Showing results (521-530 of 6,543) with videos related to

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Human Mutation|January 1, 1995
Protein truncation test: analysis of two novel point mutations at the carboxy-terminus of the human dystrophin gene associated with mental retardationS Tuffery, U Lenk, R G Roberts, et al.
Human Mutation|January 1, 1995
Mucopolysaccharidosis type II (Hunter disease): identification and characterization of eight point mutations in the iduronate-2-sulfatase gene in Japanese patientsK Sukegawa, S Tomatsu, T Fukao, et al.
Human Mutation|January 1, 1995
High frequency (71%) of cystathionine beta-synthase mutation G307S in Irish homocystinuria patientsP M Gallagher, P Ward, S Tan, et al.
Human Mutation|January 1, 1995
New point mutation (R301X) of the alpha-galactosidase A gene causing Fabry diseaseC Kawanishi, H Osaka, K Inoue, et al.
Human Mutation|January 1, 1995
Identification of a novel Ala797Thr mutation in exon 21 of the beta-myosin heavy chain gene in hypertrophic cardiomyopathyJ C Moolman, P A Brink, V A Corfield
Human Mutation|January 1, 1995
Detection of 12 novel mutations in the collagenous domain of the COL4A5 gene in Alport syndrome patientsE Boye, F Flinter, J Zhou, et al.
Human Mutation|January 1, 1995
Point mutation screening for 16 exons of the dystrophin gene by multiplex single-strand conformation polymorphism analysisA L Kneppers, P P Deutz-Terlouw, J T den Dunnen, et al.
Human Mutation|January 1, 1995
A single-tube multiplex system for the simultaneous detection of 10 common cystic fibrosis mutationsR A Axton, D J Brock
Human Mutation|January 1, 1995
Novel (cys152 > arg) missense mutation in an Arab patient with Canavan diseaseR Kaul, G P Gao, K Michals, et al.
Human Mutation|January 1, 1995
Mutations of the iduronate-2-sulfatase gene on a T146T background in three patients with Hunter syndromeP Li, P Huffman, J N Thompson
Pageof 655

Showing results (521-530 of 6,543) with videos related to

Sort By:
Pageof 655
Human Mutation|January 1, 1995
Protein truncation test: analysis of two novel point mutations at the carboxy-terminus of the human dystrophin gene associated with mental retardationS Tuffery, U Lenk, R G Roberts, et al.
Human Mutation|January 1, 1995
Mucopolysaccharidosis type II (Hunter disease): identification and characterization of eight point mutations in the iduronate-2-sulfatase gene in Japanese patientsK Sukegawa, S Tomatsu, T Fukao, et al.
Human Mutation|January 1, 1995
High frequency (71%) of cystathionine beta-synthase mutation G307S in Irish homocystinuria patientsP M Gallagher, P Ward, S Tan, et al.
Human Mutation|January 1, 1995
New point mutation (R301X) of the alpha-galactosidase A gene causing Fabry diseaseC Kawanishi, H Osaka, K Inoue, et al.
Human Mutation|January 1, 1995
Identification of a novel Ala797Thr mutation in exon 21 of the beta-myosin heavy chain gene in hypertrophic cardiomyopathyJ C Moolman, P A Brink, V A Corfield
Human Mutation|January 1, 1995
Detection of 12 novel mutations in the collagenous domain of the COL4A5 gene in Alport syndrome patientsE Boye, F Flinter, J Zhou, et al.
Human Mutation|January 1, 1995
Point mutation screening for 16 exons of the dystrophin gene by multiplex single-strand conformation polymorphism analysisA L Kneppers, P P Deutz-Terlouw, J T den Dunnen, et al.
Human Mutation|January 1, 1995
A single-tube multiplex system for the simultaneous detection of 10 common cystic fibrosis mutationsR A Axton, D J Brock
Human Mutation|January 1, 1995
Novel (cys152 > arg) missense mutation in an Arab patient with Canavan diseaseR Kaul, G P Gao, K Michals, et al.
Human Mutation|January 1, 1995
Mutations of the iduronate-2-sulfatase gene on a T146T background in three patients with Hunter syndromeP Li, P Huffman, J N Thompson
Pageof 655