Volume 7; Issue 2

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Human Mutation
Volume 7; Issue 2

Human Mutation

Volume 7; Issue 2

1

Detection of RET mutations in multiple endocrine neoplasia type 2a and familial medullary thyroid carcinoma by denaturing gradient gel electrophoresis

Michael L. Peacock, Marilyn J. Borst, Jason D. Sweet, Ruth A. Decker

Journal:

Year:

1996

Language:

english

File:

PDF, 465 KB

english, 1996

2

Characterization of a partial pseudogene homologous to the adrenoleukodystrophy gene and application to mutation detection

Andreas Braun, Stefan Kammerer, Helmut Ambach, Adelbert A. Roscher

Journal:

Year:

1996

Language:

english

File:

PDF, 316 KB

english, 1996

3

Molecular analysis of the TP53 gene in Barrett's adenocarcinoma

M.-P. Audrézet, M. Robaszkiewicz, B. Mercier, J.-B. Nousbaum, E. Hardy, J.-P. Bail, A. Volant, P. Lozac'h, H. Gouérou, C. Férec

Journal:

Year:

1996

Language:

english

File:

PDF, 468 KB

english, 1996

4

Rapid detection of point mutations and polymorphisms of the α-globin genes by DGGE and SSCA

Kees L. Harteveld, Angelien J.G.A.M. Heister, Piero C. Giordano, Monique Losekoot, Luigi F. Bernini

Journal:

Year:

1996

Language:

english

File:

PDF, 807 KB

english, 1996

5

Mucopolysaccharidosis IVA: Submicroscopic deletion of 16q24.3 and a novel R386C mutation of n-acetylgalactosamine-6-sulfate sulfatase gene in a classical Morquio disease

Seiji Fukuda, Shunji Tomatsu, Mitsuo Masuno, Tatsuya Ogawa, Atsushi Yamagishi, Golam Md. Maruf Rezvi, Kazuko Sukegawa, Nobuyuki Shimozawa, Yasuyuki Suzuki, Naomi Kondo, Kiyoshi Imaizumi, Yoshikazu Kur

Journal:

Year:

1996

Language:

english

File:

PDF, 1.11 MB

english, 1996

6

Mass allele detection (MAD) of rare 5-HT1A structural variants with allele-specific amplification and electrochemiluminescent detection

Andrew Bergen, Chang-Yu Wang, Bita Nakhai, David Goldman

Journal:

Year:

1996

Language:

english

File:

PDF, 665 KB

english, 1996

7

Advantages of RT-PCR and denaturing gradient gel electrophoresis for analysis of genomic imprinting: Detection of new mouse and human expressed polymorphisms

Mitsuyoshi Nakao, James S. Sutcliffe, Arthur L. Beaudet

Journal:

Year:

1996

Language:

english

File:

PDF, 489 KB

english, 1996

8

Substitution of A1498D in noncollagen domain of a5(IV) collagen chain associated with adult-onset X-linked alport syndrome

Svetlana Tverskaya, Vlasta Bobrynina, Fatima Tsalykova, Maya Ignatova, Xenia Krasnopolskaya, Oleg Evgrafov

Journal:

Year:

1996

Language:

english

File:

PDF, 187 KB

english, 1996

9

Novel missense mutation (G314R) in a cystic fibrosis patient with hepatic failure

Samya Z. Nasr, Theresa V. Strong, Monique K. Mansoura, David C. Dawson, Francis S. Collins

Journal:

Year:

1996

Language:

english

File:

PDF, 357 KB

english, 1996

10

A newly identified aldolase B splicing mutation (G→C, 5′ intron 5) in hereditary fructose intolerance from New Zealand

Manir Ali, Carolyn L. James, Timothy M. Cox

Journal:

Year:

1996

Language:

english

File:

PDF, 216 KB

english, 1996

11

Identification of a mutation in the mitochondrial tRNACys gene associated with mitochondrial encephalopathy

Giovanni Manfredi, Eric A. Schon, Eduardo Bonilla, Carlos T. Moraes, Sara Shanske, Salvatore DiMauro

Journal:

Year:

1996

Language:

english

File:

PDF, 525 KB

english, 1996

12

A missense (T577I) mutation in the luteinizing hormone receptor gene associated with familial male-limited precocious puberty

Sandro Cocco, Antonella Meloni, Maria Giuseppina Marini, Antonio Cao, Paolo Moi

Journal:

Year:

1996

Language:

english

File:

PDF, 229 KB

english, 1996

13

Novel mutations in the connexin 32 gene associated with X-linked Charcot-Marie tooth disease

Charles C. Tan, Peter J. Ainsworth, Angelika F. Hahn, Patrick M. MacLeod

Journal:

Year:

1996

Language:

english

File:

PDF, 480 KB

english, 1996

14

Two novel mutations affecting mRNA splicing of the neurofibromatosis type 1 (NF1) gene

G. Perrin, M.A. Morris, S.E. Antonarakis, E. Boltshauser, P. Hutter

Journal:

Year:

1996

Language:

english

File:

PDF, 269 KB

english, 1996

15

Two novel (R(−11)C; T394D) and two repeat missense mutations in the protein C gene associated with venous thrombosis in six kindreds

Helen A. Ireland, Michael D. Boisclair, Julia Taylor, Elizabeth Thompson, Swee Lay Thein, Antonio Girolami, Maurizio De Caterina, Francesco Scopacasa, Valerio De Stefano, Giuseppe Leone, Guido Finazzi

Journal:

Year:

1996

Language:

english

File:

PDF, 384 KB

english, 1996

16

Missense mutation A346P in the rhodopsin gene in one family with autosomal dominant retinitis pigmentosa

Salud Borrego, Beatriz Sánchez, Agustín Ruiz, Guillermo Antiñolo

Journal:

Year:

1996

Language:

english

File:

PDF, 216 KB

english, 1996

17

A novel splice-site mutation in the CD40L gene in a patient with X-linked hyper-IgM syndrome

Dezsö David, Ulrike Orth, Helmut Heilbronner, Andreas Gal

Journal:

Year:

1996

Language:

english

File:

PDF, 215 KB

english, 1996

18

A novel missense mutation in exon 16 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene identified in CBAVD patients

Thierry Bienvenu, Dominique Hubert, Eric Setbon, Daniel Dusser, Jean-Claude Kaplan, Cherif Beldjord

Journal:

Year:

1996

Language:

english

File:

PDF, 106 KB

english, 1996

19

A new frameshift mutation 460delG in exon 4 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene

Klaus Wagner, Petra Schneditz, Walter Rosenkranz

Journal:

Year:

1996

Language:

english

File:

PDF, 112 KB

english, 1996

20

Novel initiation codon mutation Met1Thr identified in a patient with partial hypoxanthine-guanine phosphoribosyl-transferase (HPRT) deficiency: HPRT Heidelberg

Birgit S. Gathof, Jan Geissler, Anne M. Wingen, Ursula Gresser

Journal:

Year:

1996

Language:

english

File:

PDF, 108 KB

english, 1996

21

Identification of two sporadically derived mutations in the Von Hippel-Lindau gene

Roger L. Martin, Ian Walpole, Jack Goldblatt

Journal:

Year:

1996

Language:

english

File:

PDF, 99 KB

english, 1996

22

Direct sequencing of PCR products derived from cDNAs for the proα1 and proα2 chains of type I procollagen as a screening method to detect mutations in patients with osteogenesis imperfecta

Jiapiao Zhuang, Gerard Tromp, Helena Kuivaniemi, Salvador Castells, Merete Bugge, Darwin J. Prockop

Journal:

Year:

1996

Language:

english

File:

PDF, 1004 KB

english, 1996

23

Masthead

Journal:

Year:

1996

Language:

english

File:

PDF, 114 KB

english, 1996

24

A novel null mutation in the rhodopsin gene causing late onset autosomal dominant retinitis pigmentosa

Beatriz Sánchez, Salud Borrego, Pedro Chaparro, Trinidad Rueda, Francisca López, Guillermo Antiñolo

Journal:

Year:

1996

Language:

english

File:

PDF, 109 KB

english, 1996

25

A 66-Basepair insertion in Exon 6 of the α-L-fucosidase gene of a fucosidosis patient;

Hee Chan Seo, Meiheng Yang, Alex H. Kim, John S. O'Brien, Richard A. Dicioccio, Bruce A. Gordon

Journal:

Year:

1996

Language:

english

File:

PDF, 112 KB

english, 1996

26

Two New Nonsense mutations (Q80X; Q389X) in patients with severe hunter syndrome ( mucopolysaccharidosis type II)

Romeo Carrozzo, Rossana Tonlorenzi, Fabio Corsolini, Rosanna Gatti

Journal:

Year:

1996

Language:

english

File:

PDF, 192 KB

english, 1996