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Volume 7; Issue 3
Main
Human Mutation
Volume 7; Issue 3
Human Mutation
Volume 7; Issue 3
1
Molecular basis of congenital erythropoietic porphyria: Mutations in the human uroporphyrinogen III synthase gene
Weiming Xu
,
Kenneth H. Astrin
,
Robert J. Desnick
Journal:
Human Mutation
Year:
1996
Language:
english
File:
PDF, 541 KB
Your tags:
english, 1996
2
Heteroplasmy levels of a mitochondrial gene mutation associated with diabetes mellitus decrease in leucocyte DNA upon aging
Leen M. 't Hart
,
Janna J. Jansen
,
Herman H.P.J. Lemkes
,
Peter de Knijff
,
J. Antonie Maassen
Journal:
Human Mutation
Year:
1996
Language:
english
File:
PDF, 492 KB
Your tags:
english, 1996
3
Deletion analysis of the simple tandem repeat loci physically linked to the spinal muscular atrophy locus
Francesca Capon
,
Chiarina Levato
,
Elena Bussaglia
,
Stefania Lo Cicero
,
Eduardo F. Tizzano
,
Monserrat Baiget
,
Vincenzo Silani
,
Antonio Pizzuti
,
Giuseppe Novelli
,
Bruno Dallapiccola
Journal:
Human Mutation
Year:
1996
Language:
english
File:
PDF, 463 KB
Your tags:
english, 1996
4
Database of mutations in the p53 and APC tumor suppressor genes designed to facilitate molecular epidemiological analyses
Ellen M.G. De Vries
,
Darrell O. Ricke
,
Thomas N. De Vries
,
Arndt Hartmann
,
Hagen Blaszyk
,
Dongzhou Liao
,
Thierry Soussi
,
John S. Kovach
,
Steve S. Sommer
Journal:
Human Mutation
Year:
1996
Language:
english
File:
PDF, 978 KB
Your tags:
english, 1996
5
Gaucher disease: Identification of three new mutations in the Korean and Chinese (Taiwanese) populations
Jong-Won Kim
,
Benjamin B. Liou
,
Ming-Yang Lai
,
Elvira Ponce
,
Gregory A. Grabowski
Journal:
Human Mutation
Year:
1996
Language:
english
File:
PDF, 466 KB
Your tags:
english, 1996
6
Splice site mutation causing deletion of exon 21 sequences from the proα2(I) chain of type I collagen in a patient with severe dentinogenesis imperfecta but very mild osteogenesis imperfecta
Alan C. Nicholls
,
Jane Oliver
,
Seamus McCarron
,
Gerald B. Winter
,
F. Michael Pope
Journal:
Human Mutation
Year:
1996
Language:
english
File:
PDF, 672 KB
Your tags:
english, 1996
7
PKU mutation G46S is associated with increased aggregation and degradation of the phenylalanine hydroxylase enzyme
Hans Geir Eiken
,
Per M. Knappskog
,
Jaran Apold
,
Torgeir Flatmark
Journal:
Human Mutation
Year:
1996
Language:
english
File:
PDF, 946 KB
Your tags:
english, 1996
8
Fumarylacetoacetase mutations in tyrosinaemia type I
Helge Rootwelt
,
Kari Høie
,
Ruud Berger
,
Eli Anne Kvittingen
Journal:
Human Mutation
Year:
1996
Language:
english
File:
PDF, 467 KB
Your tags:
english, 1996
9
Cystic fibrosis mutation detection by hybridization to light-generated DNA probe arrays
Maureen T. Cronin
,
Raymond V. Fucini
,
Soo Mee Kim
,
Richard S. Masino
,
Rita M. Wespi
,
C. Garrett Miyada
Journal:
Human Mutation
Year:
1996
Language:
english
File:
PDF, 1.18 MB
Your tags:
english, 1996
10
Sensitive and fast mutation detection by solid phase chemical cleavage
Lise Lotte Hansen
,
Just Justesen
,
Torben A. Kruse
Journal:
Human Mutation
Year:
1996
Language:
english
File:
PDF, 685 KB
Your tags:
english, 1996
11
Novel frameshift mutation (1806insA) in exon 14 of the Fanconi anemia c gene, FAC
Jerome R. Lo Ten Foe
,
Martin A. Rooimans
,
Hans Joenje
,
Fré Arwert
Journal:
Human Mutation
Year:
1996
Language:
english
File:
PDF, 180 KB
Your tags:
english, 1996
12
A 5-megabase familial deletion removes the IDS and FMR-1 genes in a male Hunter patient
A.M. Birot
,
B. Delobel
,
P. Gronnier
,
V. Bonnet
,
I. Maire
,
D. Bozon
Journal:
Human Mutation
Year:
1996
Language:
english
File:
PDF, 271 KB
Your tags:
english, 1996
13
Two point mutations (313 + 1G→A and 313 + 1G→T) in the splice donor site of intron 3 of the low-density lipoprotein receptor gene are associated with familial hypercholesterolemia
H.K. Jensen
,
L.G. Jensen
,
P.S. Hansen
,
O. Færgeman
,
N. Gregersen
Journal:
Human Mutation
Year:
1996
Language:
english
File:
PDF, 265 KB
Your tags:
english, 1996
14
Two novel (1098insA and Y313H) and one rare (R359Q) mutations detected in exon 8 of the β-glucocerebrosidase gene in Gaucher's disease patients
Bru Cormand
,
Lluïsa Vilageliu
,
Susana Balcells
,
Roser Gonzàlez-Duarte
,
Amparo Chabás
,
Daniel Grinberg
Journal:
Human Mutation
Year:
1996
Language:
english
File:
PDF, 298 KB
Your tags:
english, 1996
15
Somatic mutations of a human mismatch repair gene, hMLH1, in tumors from patients with multiple primary cancers
Shin Sasaki
,
Akira Horii
,
Mamoru Shimada
,
Hye-Jung Han
,
Akio Yanagisawa
,
Tetsuichiro Muto
,
Yusuke Nakamura
Journal:
Human Mutation
Year:
1996
Language:
english
File:
PDF, 336 KB
Your tags:
english, 1996
16
A novel missense mutation in the exon containing the putative ornithine-binding domain of the OTC enzyme in a female
Laurie A. Demmer
,
Jean M. Kim
,
Berengere de Martinville
,
S. Bruce Dowton
Journal:
Human Mutation
Year:
1996
Language:
english
File:
PDF, 85 KB
Your tags:
english, 1996
17
Sequence variation in intron of prion protein gene, crucial for complete diagnostic strategies
Mark S. Palmer
,
Ronald H. van Leeven
,
Sukhvir P. Mahal
,
Tracy A. Campbell
,
Christine B. Humphreys
,
John Collinge
Journal:
Human Mutation
Year:
1996
Language:
english
File:
PDF, 143 KB
Your tags:
english, 1996
18
Masthead
Journal:
Human Mutation
Year:
1996
Language:
english
File:
PDF, 115 KB
Your tags:
english, 1996
19
Announcement
Journal:
Human Mutation
Year:
1996
Language:
english
File:
PDF, 56 KB
Your tags:
english, 1996
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