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Journal Title:
Human Mutation
Subjects:
Adenosine Triphosphatases - Genetics
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Journal Title:
Human Mutation
Subjects:
Adenosine Triphosphatases - Genetics
AND
Genotype
Search Results - "Clinical genetics"
Showing
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for search '
"Clinical genetics"
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1
Wilson disease: Novel mutations in the ATP7B gene and
clinical
correlation in Brazilian patients
by
Deguti, Marta M.
,
Genschel, Janine
,
Cancado, Eduardo L.R.
,
Barbosa, Egberto R.
,
Bochow, Bettina
,
Mucenic, Marcos
,
Porta, Gilda
,
Lochs, Herbert
,
Carrilho, Flair J.
,
Schmidt, Hartmut H.-J.
Published in
Human mutation
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2
Further delineation of the molecular pathology of Wilson disease in the Mediterranean population
by
Loudianos, Georgios
,
Dessì, Valeria
,
Lovicu, Mario
,
Angius, Andrea
,
Nurchi, Annamaria
,
Sturniolo, Giacomo Carlo
,
Marcellini, Matilde
,
Zancan, Lucia
,
Bragetti, Patrizia
,
Akar, Nejat
,
Yagci, Rasit
,
Vegnente, Angela
,
Cao, Antonio
,
Pirastu, Mario
Published in
Human mutation
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3
Novel ATP7B mutations causing Wilson disease in several Israeli ethnic groups
by
Kalinsky, Hagar
,
Funes, Adina
,
Zeldin, Alina
,
Pel-Or, Yehuda
,
Korostishevsky, Misha
,
Gershoni-Baruch, Ruth
,
Farrer, Lindsay A.
,
Bonne-Tamir, Batsheva
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Human mutation
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4
A rapid method for detecting the predominant Ashkenazi Jewish mutation in the Bloom's syndrome gene
by
Straughen, Joel E.
,
Johnson, Juliana
,
McLaren, Donna
,
Proytcheva, Maria
,
Ellis, Nathan
,
German, James
,
Groden, Joanna
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Human mutation
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Journal Title
Human Mutation
Subjects
Adenosine Triphosphatases - Genetics
Genotype
Humans
4
Life Sciences & Biomedicine
4
Science & Technology
4
Genetics & Heredity
4
Hepatolenticular Degeneration - Genetics
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Male
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Dna Mutational Analysis
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Copper-Transporting Atpases
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Carrier Proteins - Genetics
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Cation Transport Proteins
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Mutation
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Polymerase Chain Reaction
2
Polymorphism, Restriction Fragment Length
2
Wilson Disease
2
Adenosine Triphosphatases - Metabolism
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Wiley-Blackwell Journals (Backfile Content)
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