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1
Alpha 1-antitrypsin deficiency caused by the alpha 1-antitrypsin Nullmattawa gene. An insertion mutation rendering the alpha 1-antitrypsin gene incapable of producing alpha 1-antitrypsin
Alpha 1-antitrypsin deficiency caused by the alpha 1-antitrypsin Nullmattawa gene. An insertion mutation rendering the alpha 1-antitrypsin gene incapable of producing alpha 1-antitrypsin
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Alpha 1-antitrypsin deficiency caused by the alpha 1-antitrypsin Nullmattawa gene. An insertion mutation rendering the alpha 1-antitrypsin gene incapable of producing alpha 1-antitrypsin

Curiel, D ; Brantly, M ; Curiel, E ; Stier, L ; Crystal, R G

The Journal of clinical investigation, 1989-04, Vol.83 (4), p.1144-1152 [Periódico revisado por pares]

United States

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2
Molecular basis for congenital deficiency of alpha 2-plasmin inhibitor. A frameshift mutation leading to elongation of the deduced amino acid sequence
Molecular basis for congenital deficiency of alpha 2-plasmin inhibitor. A frameshift mutation leading to elongation of the deduced amino acid sequence
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Molecular basis for congenital deficiency of alpha 2-plasmin inhibitor. A frameshift mutation leading to elongation of the deduced amino acid sequence

Miura, O ; Hirosawa, S ; Kato, A ; Aoki, N

The Journal of clinical investigation, 1989-05, Vol.83 (5), p.1598-1604 [Periódico revisado por pares]

United States

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3
Evidence for a dominant gene that suppresses hypercholesterolemia in a family with defective low density lipoprotein receptors
Evidence for a dominant gene that suppresses hypercholesterolemia in a family with defective low density lipoprotein receptors
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Evidence for a dominant gene that suppresses hypercholesterolemia in a family with defective low density lipoprotein receptors

HOBBS, H. H ; LEITERSDORF, E ; LEFFERT, C. C ; CRYER, D. R ; BROWN, M. S ; GOLDSTEIN, J. L

The Journal of clinical investigation, 1989-08, Vol.84 (2), p.656-664 [Periódico revisado por pares]

Ann Arbor, MI: American Society for Clinical Investigation

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4
A missense mutation in the neutrophil cytochrome b heavy chain in cytochrome-positive X-linked chronic granulomatous disease
A missense mutation in the neutrophil cytochrome b heavy chain in cytochrome-positive X-linked chronic granulomatous disease
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A missense mutation in the neutrophil cytochrome b heavy chain in cytochrome-positive X-linked chronic granulomatous disease

DINAUER, M. C ; CURNUTTE, J. T ; ROSEN, H ; ORKIN, S. H

The Journal of clinical investigation, 1989-12, Vol.84 (6), p.2012-2016 [Periódico revisado por pares]

Ann Arbor, MI: American Society for Clinical Investigation

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5
Point Mutations of c‐ras Genes in Human Bladder Cancer and Kidney Cancer
Point Mutations of c‐ras Genes in Human Bladder Cancer and Kidney Cancer
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Point Mutations of c‐ras Genes in Human Bladder Cancer and Kidney Cancer

Nagata, Yasuhiko ; Abe, Masumi ; Kobayashi, Kohmei ; Saiki, Shigeru ; Kotake, Toshihiko ; Yoshikawa, Kazuhiro ; Ueda, Ryuzo ; Nakayama, Eiichi ; Shiku, Hiroshi

Cancer science, 1990-01, Vol.81 (1), p.22-27 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

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6
Frequent Glycine‐to‐Aspartic Acid Mutations at Codon 12 of c‐Ki‐ras Gene in Human Pancreatic Cancer in Japanese
Frequent Glycine‐to‐Aspartic Acid Mutations at Codon 12 of c‐Ki‐ras Gene in Human Pancreatic Cancer in Japanese
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Frequent Glycine‐to‐Aspartic Acid Mutations at Codon 12 of c‐Ki‐ras Gene in Human Pancreatic Cancer in Japanese

Nagata, Yasuhiko ; Abe, Masumi ; Motoshima, Koichi ; Nakayama, Eiichi ; Shiku, Hiroshi

Cancer science, 1990-02, Vol.81 (2), p.135-140 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

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7
Improved diagnosis of Duchenne/Becker muscular dystrophy
Improved diagnosis of Duchenne/Becker muscular dystrophy
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Improved diagnosis of Duchenne/Becker muscular dystrophy

BEGGS, A. H ; KUNKEI, L. M

The Journal of clinical investigation, 1990-03, Vol.85 (3), p.613-619 [Periódico revisado por pares]

Ann Arbor, MI: American Society for Clinical Investigation

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8
Molecular basis of hereditary C3 deficiency
Molecular basis of hereditary C3 deficiency
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Molecular basis of hereditary C3 deficiency

BOTTO, M ; KOK YONG FONG ; SO, A. K ; RUDGE, A ; WALPORT, M. J

The Journal of clinical investigation, 1990-10, Vol.86 (4), p.1158-1163 [Periódico revisado por pares]

Ann Arbor, MI: American Society for Clinical Investigation

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9
Schindler disease : the molecular lesion in the α-N-acetylgalactosaminidase gene that causes an infantile neuroaxonal dystrophy
Schindler disease : the molecular lesion in the α-N-acetylgalactosaminidase gene that causes an infantile neuroaxonal dystrophy
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Schindler disease : the molecular lesion in the α-N-acetylgalactosaminidase gene that causes an infantile neuroaxonal dystrophy

WANG, A. M ; SCHINDLER, D ; DESNICK, R. J

The Journal of clinical investigation, 1990-11, Vol.86 (5), p.1752-1756 [Periódico revisado por pares]

Ann Arbor, MI: American Society for Clinical Investigation

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10
Leukaemia mortality among relatives of cystic fibrosis patients
Leukaemia mortality among relatives of cystic fibrosis patients
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Leukaemia mortality among relatives of cystic fibrosis patients

al-Jader, L N ; West, R R ; Holmes, J A ; Meredith, L ; Goodchild, M C ; Harper, P S

Archives of disease in childhood, 1991-03, Vol.66 (3), p.317-319 [Periódico revisado por pares]

London: BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health

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