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Volume 10; Issue 4
Main
Human Mutation
Volume 10; Issue 4
Human Mutation
Volume 10; Issue 4
1
Registries of immunodeficiency patients and mutations
Ilkka Lappalainen
,
Juha Ollila
,
C. I. Edvard Smith
,
Mauno Vihinen
Journal:
Human Mutation
Year:
1997
Language:
english
File:
PDF, 211 KB
Your tags:
english, 1997
2
Molecular genetics of Krabbe disease (globoid cell leukodystrophy): Diagnostic and clinical implications
David A. Wenger
,
Mohammad A. Rafi
,
Paola Luzi
Journal:
Human Mutation
Year:
1997
Language:
english
File:
PDF, 166 KB
Your tags:
english, 1997
3
Mutation screening of all 65 exons of the fibrillin-1 gene in 60 patients with Marfan syndrome: Report of 12 novel mutations
Caroline Hayward
,
Mary E. Porteous
,
David J. H. Brock
Journal:
Human Mutation
Year:
1997
Language:
english
File:
PDF, 261 KB
Your tags:
english, 1997
4
Evidence for founder effect of the glu104asp substitution and identification of new mutations in triosephosphate isomerase deficiency
Roopen Arya
,
Michel R. A. Lalloz
,
Alastair J. Bellingham
,
D. Mark Layton
Journal:
Human Mutation
Year:
1997
Language:
english
File:
PDF, 166 KB
Your tags:
english, 1997
5
Tay-Sachs disease and HEXA mutations among Moroccan Jews
Michal Kaufman
,
Julia Grinshpun-Cohen
,
Mazal Karpati
,
Lea Peleg
,
Boleslaw Goldman
,
Edna Akstein
,
Avinoam Adam
,
Ruth Navon
Journal:
Human Mutation
Year:
1997
Language:
english
File:
PDF, 201 KB
Your tags:
english, 1997
6
Adult vitelliform macular dystrophy is frequently associated with mutations in the peripherin/RDS gene
Ute Felbor
,
Harald Schilling
,
Bernhard H. F. Weber
Journal:
Human Mutation
Year:
1997
Language:
english
File:
PDF, 239 KB
Your tags:
english, 1997
7
Characterization of a deletion mutation involving exons 3–7 of the WASP gene detected in a patient with Wiskott-Aldrich syndrome
Tadashi Ariga
,
Masafumi Yamada
,
Sukeyuki Ito
,
Mika Iwamura
,
Mikiro Iseki
,
Yukio Sakiyama
Journal:
Human Mutation
Year:
1997
Language:
english
File:
PDF, 326 KB
Your tags:
english, 1997
8
Confirmation of homozygosity for a single nucleotide substitution mutation in a Cockayne syndrome patient using monoallelic mutation analysis in somatic cell hybrids
Lisa D. McDaniel
,
Randy Legerski
,
Alan R. Lehmann
,
Errol C. Friedberg
,
Roger A. Schultz
Journal:
Human Mutation
Year:
1997
Language:
english
File:
PDF, 175 KB
Your tags:
english, 1997
9
Quantitative enriched PCR (QEPCR), a highly sensitive method for detection of K-ras oncogene mutation
Ze'ev Ronai
,
Toshinari Minamoto
Journal:
Human Mutation
Year:
1997
Language:
english
File:
PDF, 149 KB
Your tags:
english, 1997
10
P1148A in fibrillin-1 is not a mutation leading to Shprintzen-Goldberg syndrome
Yoriko Watanabe
,
Shoji Yano
,
Yasutoshi Koga
,
Shigenori Yukizane
,
Atsushi Nishiyori
,
Makoto Yoshino
,
Hirohisa Kato
,
Tsutomu Ogata
,
Masanori Adachi
Journal:
Human Mutation
Year:
1997
Language:
english
File:
PDF, 72 KB
Your tags:
english, 1997
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