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Volume 12; Issue 3
Main
Human Mutation
Volume 12; Issue 3
Human Mutation
Volume 12; Issue 3
1
Glutaryl-CoA dehydrogenase mutations in glutaric acidemia (type I): Review and report of thirty novel mutations
Stephen I. Goodman
,
Donna E. Stein
,
Sudha Schlesinger
,
Ernst Christensen
,
Marianne Schwartz
,
Cheryl R. Greenberg
,
Orly N. Elpeleg
Journal:
Human Mutation
Year:
1998
Language:
english
File:
PDF, 245 KB
Your tags:
english, 1998
2
Identification of Alu-mediated deletions in the Fanconi anemia gene FAA
Orna Levran
,
Norman A. Doggett
,
Arleen D. Auerbach
Journal:
Human Mutation
Year:
1998
Language:
english
File:
PDF, 501 KB
Your tags:
english, 1998
3
Information analysis of human splice site mutations
Peter K. Rogan
,
Brian M. Faux
,
Thomas D. Schneider
Journal:
Human Mutation
Year:
1998
Language:
english
File:
PDF, 429 KB
Your tags:
english, 1998
4
Five families with arginine519-cysteine mutation in COL2A1: Evidence for three distinct founders
Jane F. Bleasel
,
Daniel Holderbaum
,
Valeria Brancolini
,
Roland W. Moskowitz
,
Eileen L. Considine
,
Darwin J. Prockop
,
Marcella Devoto
,
Charlene J. Williams
Journal:
Human Mutation
Year:
1998
Language:
english
File:
PDF, 256 KB
Your tags:
english, 1998
5
Detection of known and new mutations in the thiopurine S-methyltransferase gene by single-strand conformation polymorphism analysis
Catherine Spire-Vayron de la Moureyre
,
Hervé Debuysère
,
Nadda Sabbagh
,
Delphine Marez
,
Elizabeth Vinner
,
Emmanuel Dany Chevalier
,
Jean-Marc Lo Guidice
,
Franck Broly
Journal:
Human Mutation
Year:
1998
Language:
english
File:
PDF, 467 KB
Your tags:
english, 1998
6
ATM mutations in patients with ataxia telangiectasia screened by a hierarchical strategy
Tomonari Sasaki
,
Huaize Tian
,
Yoji Kukita
,
Masakazu Inazuka
,
Tomoko Tahira
,
Takashi Imai
,
Masatake Yamauchi
,
Toshiyuki Saito
,
Tada-aki Hori
,
Tomoko Hashimoto-Tamaoki
,
Kenshi Komatsu
,
Osamu Nikaido
,
Ke
Journal:
Human Mutation
Year:
1998
Language:
english
File:
PDF, 476 KB
Your tags:
english, 1998
7
V2 vasopressin receptor dysfunction in nephrogenic diabetes insipidus caused by different molecular mechanisms
Torsten Schöneberg
,
Angela Schulz
,
Heike Biebermann
,
Anette Grüters
,
Torsten Grimm
,
Klaus Hübschmann
,
Guido Filler
,
Thomas Gudermann
,
Günter Schultz
Journal:
Human Mutation
Year:
1998
Language:
english
File:
PDF, 603 KB
Your tags:
english, 1998
8
Prenatal diagnosis of carbamoyl phosphate synthetase I deficiency by identification of a missense mutation in CPS1
Ulrich Finckh
,
Alfried Kohlschütter
,
Hansjörg Schäfer
,
Katja Sperhake
,
Jean-Pierre Colombo
,
Andreas Gal
Journal:
Human Mutation
Year:
1998
Language:
english
File:
PDF, 597 KB
Your tags:
english, 1998
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