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Identification of Mutations in the COL4A5 Collagen Gene in Alport Syndrome

Science (American Association for the Advancement of Science), 1990-06, Vol.248 (4960), p.1224-1227

1990

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Single base mutation in α5(IV) collagen chain gene converting a conserved cysteine to serine in Alport syndrome

Genomics (San Diego, Calif.), 1991, Vol.9 (1), p.10-18

1991

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Immunomodulation In Vivo by the Mycoplasma arthritidis Superantigen, MAM

Clinical infectious diseases, 1993-08, Vol.17 (Supplement-1), p.S163-S169

1993

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Efficient detection of alport syndrome COL4a5 mutations with multiplex genomic PCR-SSCP

American journal of medical genetics, 2001-01, Vol.98 (2), p.148-160

2001

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Allelic polymorphisms at the H-2A and HLA-DQ loci influence the response of murine lymphocytes to the Mycoplasma arthritidis superantigen MAM

Infection and Immunity, 1997-10, Vol.65 (10), p.4190-4198

1997

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The Mycoplasma arthritidis T-cell mitogen MAM: a model superantigen

Immunology Today, 1991-08, Vol.12 (8), p.271-276

1991

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The sequence of the Mycoplasma arthritidis superantigen, MAM: identification of functional domains and comparison with microbial superantigens and plant lectin mitogens

The Journal of experimental medicine, 1996-03, Vol.183 (3), p.1105-1110

1996

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Identification of 17 mutations in ten exons in the COL4A5 collagen gene, but no mutations found in four exons in COL4A6: a study of 250 patients with hematuria and suspected of having Alport syndrome

Journal of the American Society of Nephrology, 1996-05, Vol.7 (5), p.702-709

1996

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Common ancestry of three Ashkenazi-American families with Alport syndrome and COL4A5 R1677Q

Human genetics, 1997-05, Vol.99 (5), p.681-684

1997

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Alport syndrome--clinical phenotypes, incidence, and pathology

Contributions to nephrology, 1996, Vol.117, p.1

1996

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Iron and Free Radical in Ribonucleotide Reductase

The Journal of biological chemistry, 1973-11, Vol.248 (21), p.7464-7472

1973

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Allelic Polymorphisms at the H-2A and HLA-DQ Loci Influence the Response of Murine Lymphocytes to the Mycoplasma arthritidis Superantigen MAM

Infection and immunity, 1998-05, Vol.66 (5), p.2399-2399

1998

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Expression of mRNA for type IV collagen α1, α5 and α6 chains by cultured dermal fibroblasts from patients with X-linked Alport syndrome

Matrix biology, 1998, Vol.17 (4), p.279-291

1998

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Chromatographic separation of tertiary nitrogen compounds from photodynamic dye precursors

Analytical chemistry (Washington), 1967-05, Vol.39 (6), p.672-673

1967

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Identification of variant Alport phenotypes using an Alport-specific antibody probe

Kidney international, 1989-10, Vol.36 (4), p.669-674

1989

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High-density genetic and physical mapping of DNA markers near the X-linked alport syndrome locus : definition and use of flanking polymorphic markers

Human genetics, 1991-12, Vol.88 (2), p.189-194

1991

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Failure of human milk therapy in Menkes' kinky hair disease

American journal of diseases of children (1960), 1979-02, Vol.133 (2), p.218

1979

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Application of linked markers for genetic diagnosis of Alport syndrome

Contributions to nephrology, 1996, Vol.117, p.29

1996

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Hereditary Myeloperoxidase Deficiency

Blood, 1981-05, Vol.57 (5), p.888-893

1981

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Intact form of myeloperoxidase from normal human neutrophils

Archives of biochemistry and biophysics, 1982-03, Vol.214 (1), p.273-283

1982

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Rhodotorulic acid, a diketopiperazine dihydroxamic acid with growth-factor activity. I. Isolation and characterization

Biochemistry (Easton), 1968-10, Vol.7 (10), p.3734-3739

1968

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Efficient detection of alport syndromeCOL4a5 mutations with multiplex genomic PCR-SSCP

American journal of medical genetics, 2001-01, Vol.98 (2), p.148-160

2001

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Electrode Reactions of Aromatic Compounds in Strong Acid Solutions. Chronopotentiometric and Spectrometric Studies of the p-Hydroquinone-H2SO4 System at Platinum Electrodes

Analytical chemistry (Washington), 1964-03, Vol.36 (3), p.514-520

1964

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Tissue copper concentrations of patients with Menke's kinky hair disease

American journal of diseases of children (1960), 1981-04, Vol.135 (4), p.375

1981

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Patient preferences for whole-body MRI or conventional staging pathways in lung and colorectal cancer: a discrete choice experiment

European radiology, 2019-07, Vol.29 (7), p.3889-3900

2019

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Identification of Mutations in the COL4A5 Collagen Gene in Alport Syndrome

Single base mutation in α5(IV) collagen chain gene converting a conserved cysteine to serine in Alport syndrome

Immunomodulation In Vivo by the Mycoplasma arthritidis Superantigen, MAM

Efficient detection of alport syndrome COL4a5 mutations with multiplex genomic PCR-SSCP

Allelic polymorphisms at the H-2A and HLA-DQ loci influence the response of murine lymphocytes to the Mycoplasma arthritidis superantigen MAM

The Mycoplasma arthritidis T-cell mitogen MAM: a model superantigen

The sequence of the Mycoplasma arthritidis superantigen, MAM: identification of functional domains and comparison with microbial superantigens and plant lectin mitogens

Identification of 17 mutations in ten exons in the COL4A5 collagen gene, but no mutations found in four exons in COL4A6: a study of 250 patients with hematuria and suspected of having Alport syndrome

Common ancestry of three Ashkenazi-American families with Alport syndrome and COL4A5 R1677Q

Alport syndrome--clinical phenotypes, incidence, and pathology

Iron and Free Radical in Ribonucleotide Reductase

Allelic Polymorphisms at the H-2A and HLA-DQ Loci Influence the Response of Murine Lymphocytes to the Mycoplasma arthritidis Superantigen MAM

Expression of mRNA for type IV collagen α1, α5 and α6 chains by cultured dermal fibroblasts from patients with X-linked Alport syndrome

Chromatographic separation of tertiary nitrogen compounds from photodynamic dye precursors

Identification of variant Alport phenotypes using an Alport-specific antibody probe

High-density genetic and physical mapping of DNA markers near the X-linked alport syndrome locus : definition and use of flanking polymorphic markers

Failure of human milk therapy in Menkes' kinky hair disease

Application of linked markers for genetic diagnosis of Alport syndrome

Hereditary Myeloperoxidase Deficiency

Intact form of myeloperoxidase from normal human neutrophils

Rhodotorulic acid, a diketopiperazine dihydroxamic acid with growth-factor activity. I. Isolation and characterization

Efficient detection of alport syndromeCOL4a5 mutations with multiplex genomic PCR-SSCP

Electrode Reactions of Aromatic Compounds in Strong Acid Solutions. Chronopotentiometric and Spectrometric Studies of the p-Hydroquinone-H2SO4 System at Platinum Electrodes

Tissue copper concentrations of patients with Menke's kinky hair disease

Patient preferences for whole-body MRI or conventional staging pathways in lung and colorectal cancer: a discrete choice experiment

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