New! Learn more about the all new DeepDyve personalized home page where you can quickly skim your favorite journals all from one place

Human Mutation Volume 3 Issue 4

2013
- Volume 34
2012
- Volume 33
2011
- Volume 32
2010
- Volume 31
2009
- Volume 30
2008
- Volume 29
2007
- Volume 28
2006
- Volume 27
2005
- Volume 26
- Volume 25
2004
- Volume 24
- Volume 23
2003
- Volume 22
- Volume 21
2002
- Volume 20
- Volume 19
2001
- Volume 18
- Volume 17
2000
- Volume 16
- Volume 15
1999
- Volume 14
- Volume 13
1998
- Volume 12
- Volume 11
1997
- Volume 10
- Volume 9
1996
- Volume 8
- Volume 7
1995
- Volume 6
- Volume 5
1994
- Volume 4
- Volume 3
1993
- Volume 2
1992
- Volume 1

Bookmark
More Like This 7FllESbh48 Rentable

Masthead

Follow Human Mutation , Volume 3 (4) Wiley – Jan 1, 1994
Bookmark
More Like This fqB9efNW0K Rentable

A novel frameshift deletion in type IV collagen α5 gene in a juvenile‐type Alport syndrome patient: An adenine deletion (2940/2943 del A) in exon 34 of COL4A5

Peissel, Bernard; Rossetti, Sandro; Renieri, Alessandra; Galli, Lucia; De Marchi, Mario; Battini, Graziana; Meroni, Mietta; Sessa, Adalberto; Schiavano, Salvatore; Pignatti, Pier Franco; Turco, Alberto E.

Follow Human Mutation , Volume 3 (4) Wiley – Jan 1, 1994
Bookmark
More Like This zhNa4kdXDH Rentable

A missense mutation (F87L) in exon 3 of the cystic fibrosis transmembrane conductance regulator gene

Bienvenu, T.; Petitpretz, P.; Beldjord, C.; Kaplan, J. C.

Follow Human Mutation , Volume 3 (4) Wiley – Jan 1, 1994
Bookmark
More Like This 7oqH0soxUO Rentable

Four newly identified ornithine transcarbamylase (OTC) mutations (D126G, R129H, I172M and W332X) in Japanese male patients with early‐onset OTC deficiency

Matsuura, Toshinobu; Hoshide, Ryuuji; Kiwaki, Kohji; Komaki, Satoru; Koike, Emiko; Endo, Fumio; Oyanagi, Kazuhiko; Suzuki, Yoshimi; Kato, Ineko; Ishikawa, Kaoru; Yoda, Hitoshi; Kamitani, Shigeki; Sakaki, Yoshiyuki; Matsuda, Ichiro

Follow Human Mutation , Volume 3 (4) Wiley – Jan 1, 1994
Bookmark
More Like This tTOSpOjKdA Rentable

New alleles at microsatellite loci in CEPH families mainly arise from somatic mutations in the lymphoblastoid cell lines

Banchs, I.; Bosch, A.; Guimerà, J.; Lázaro, C.; Puig, A.; Estivill, X.

Follow Human Mutation , Volume 3 (4) Wiley – Jan 1, 1994
Bookmark
More Like This Tffb4lAeKB Rentable

A new frameshift mutation, insertion of ATCT, at codon 48 in the β‐globin gene causes β‐thalassemia in an Indian proband

Jain, Pawan K.; Dozy, Andrée M.; Verma, I. C.; Chehab, Farid F.

Follow Human Mutation , Volume 3 (4) Wiley – Jan 1, 1994
Bookmark
More Like This freuIvjChE Rentable

Two new rhodopsin transversion mutations (L40R; M216K) in families with autosomal dominant retinitis pigmentosa

Al‐Maghtheh, Mai; Inglehearn, Chris; Lunt, Peter; Jay, Marcelle; Bird, Alan; Bhattacharya, Shomi

Follow Human Mutation , Volume 3 (4) Wiley – Jan 1, 1994
Bookmark
More Like This H5Yd2v1trp Rentable

A Gly859Ser substitution in the triple helical domain of the α2 chain of type I collagen resulting in osteogenesis imperfecta type III in two unrelated individuals

Rose, Nicola J.; Mackay, Katrina; Byers, Peter H.; Dalgleish, Raymond

Follow Human Mutation , Volume 3 (4) Wiley – Jan 1, 1994
Bookmark
More Like This cgfeoKUfCT Rentable

APC and p53 mutations in de novo colorectal adenocarcinomas

Aoki, Takahisa; Takeda, Satoshi; Yanagisawa, Akio; Kato, Yo; Ajioka, Yoichi; Watanabe, Hidenobu; Kudo, Shinei; Nakamura, Yusuke

Follow Human Mutation , Volume 3 (4) Wiley – Jan 1, 1994
Bookmark
More Like This KrekzAPJ4E Rentable

Announcement

Follow Human Mutation , Volume 3 (4) Wiley – Jan 1, 1994

Human Mutation Volume 3 Issue 4

Masthead

Follow Human Mutation , Volume 3 (4) Wiley – Jan 1, 1994

A novel frameshift deletion in type IV collagen α5 gene in a juvenile‐type Alport syndrome patient: An adenine deletion (2940/2943 del A) in exon 34 of COL4A5

Peissel, Bernard; Rossetti, Sandro; Renieri, Alessandra; Galli, Lucia; De Marchi, Mario; Battini, Graziana; Meroni, Mietta; Sessa, Adalberto; Schiavano, Salvatore; Pignatti, Pier Franco; Turco, Alberto E.

Follow Human Mutation , Volume 3 (4) Wiley – Jan 1, 1994

A missense mutation (F87L) in exon 3 of the cystic fibrosis transmembrane conductance regulator gene

Bienvenu, T.; Petitpretz, P.; Beldjord, C.; Kaplan, J. C.

Follow Human Mutation , Volume 3 (4) Wiley – Jan 1, 1994

Four newly identified ornithine transcarbamylase (OTC) mutations (D126G, R129H, I172M and W332X) in Japanese male patients with early‐onset OTC deficiency

Matsuura, Toshinobu; Hoshide, Ryuuji; Kiwaki, Kohji; Komaki, Satoru; Koike, Emiko; Endo, Fumio; Oyanagi, Kazuhiko; Suzuki, Yoshimi; Kato, Ineko; Ishikawa, Kaoru; Yoda, Hitoshi; Kamitani, Shigeki; Sakaki, Yoshiyuki; Matsuda, Ichiro

Follow Human Mutation , Volume 3 (4) Wiley – Jan 1, 1994

New alleles at microsatellite loci in CEPH families mainly arise from somatic mutations in the lymphoblastoid cell lines

Banchs, I.; Bosch, A.; Guimerà, J.; Lázaro, C.; Puig, A.; Estivill, X.

Follow Human Mutation , Volume 3 (4) Wiley – Jan 1, 1994

A new frameshift mutation, insertion of ATCT, at codon 48 in the β‐globin gene causes β‐thalassemia in an Indian proband

Jain, Pawan K.; Dozy, Andrée M.; Verma, I. C.; Chehab, Farid F.

Follow Human Mutation , Volume 3 (4) Wiley – Jan 1, 1994

Two new rhodopsin transversion mutations (L40R; M216K) in families with autosomal dominant retinitis pigmentosa

Al‐Maghtheh, Mai; Inglehearn, Chris; Lunt, Peter; Jay, Marcelle; Bird, Alan; Bhattacharya, Shomi

Follow Human Mutation , Volume 3 (4) Wiley – Jan 1, 1994

A Gly859Ser substitution in the triple helical domain of the α2 chain of type I collagen resulting in osteogenesis imperfecta type III in two unrelated individuals

Rose, Nicola J.; Mackay, Katrina; Byers, Peter H.; Dalgleish, Raymond

Follow Human Mutation , Volume 3 (4) Wiley – Jan 1, 1994

APC and p53 mutations in de novo colorectal adenocarcinomas

Aoki, Takahisa; Takeda, Satoshi; Yanagisawa, Akio; Kato, Yo; Ajioka, Yoichi; Watanabe, Hidenobu; Kudo, Shinei; Nakamura, Yusuke

Follow Human Mutation , Volume 3 (4) Wiley – Jan 1, 1994

Announcement

Follow Human Mutation , Volume 3 (4) Wiley – Jan 1, 1994

Advanced Filters:

Specific Data Sources:

Human Mutation Volume 3 Issue 4

1 - 10 of 20 articles

Follow Human Mutation , Volume 3 (4) Wiley – Jan 1, 1994

Peissel, Bernard; Rossetti, Sandro; Renieri, Alessandra; Galli, Lucia; De Marchi, Mario; Battini, Graziana; Meroni, Mietta; Sessa, Adalberto; Schiavano, Salvatore; Pignatti, Pier Franco; Turco, Alberto E.

Follow Human Mutation , Volume 3 (4) Wiley – Jan 1, 1994

Bienvenu, T.; Petitpretz, P.; Beldjord, C.; Kaplan, J. C.

Follow Human Mutation , Volume 3 (4) Wiley – Jan 1, 1994

Matsuura, Toshinobu; Hoshide, Ryuuji; Kiwaki, Kohji; Komaki, Satoru; Koike, Emiko; Endo, Fumio; Oyanagi, Kazuhiko; Suzuki, Yoshimi; Kato, Ineko; Ishikawa, Kaoru; Yoda, Hitoshi; Kamitani, Shigeki; Sakaki, Yoshiyuki; Matsuda, Ichiro

Follow Human Mutation , Volume 3 (4) Wiley – Jan 1, 1994

Banchs, I.; Bosch, A.; Guimerà, J.; Lázaro, C.; Puig, A.; Estivill, X.

Follow Human Mutation , Volume 3 (4) Wiley – Jan 1, 1994

Jain, Pawan K.; Dozy, Andrée M.; Verma, I. C.; Chehab, Farid F.

Follow Human Mutation , Volume 3 (4) Wiley – Jan 1, 1994

Al‐Maghtheh, Mai; Inglehearn, Chris; Lunt, Peter; Jay, Marcelle; Bird, Alan; Bhattacharya, Shomi

Follow Human Mutation , Volume 3 (4) Wiley – Jan 1, 1994

Rose, Nicola J.; Mackay, Katrina; Byers, Peter H.; Dalgleish, Raymond

Follow Human Mutation , Volume 3 (4) Wiley – Jan 1, 1994

Aoki, Takahisa; Takeda, Satoshi; Yanagisawa, Akio; Kato, Yo; Ajioka, Yoichi; Watanabe, Hidenobu; Kudo, Shinei; Nakamura, Yusuke

Follow Human Mutation , Volume 3 (4) Wiley – Jan 1, 1994

Follow Human Mutation , Volume 3 (4) Wiley – Jan 1, 1994